% version = 1.05 of splice.bib 1998 June 3

@article{ONeill.Rogan1998,
author = "J. P. O'Neill
 and P. K. Rogan
 and N. Cariello
 and J. A. Nicklas",
title = "{Mutations that alter {RNA} splicing of the human
{HPRT} gene: A review of the spectrum}",
journal = "Rev. Mut. Res.",
volume = "\todo in press",
pages = "\todo-\todo",
year = "1998"}

@article{Day.White1996,
author = "D. J. Day
 and P. W. Speiser
 and E. Schulze
 and M. Bettendorf
 and J. Fitness
 and F. Barany
 and P. C. White",
title = "{Identification of non-amplifying CYP21 genes when using PCR-based
diagnosis of 21-hydroxylase deficiency in congenital adrenal
hyperplasia (CAH) affected pedigrees}",
journal = "Hum Mol Genet",
volume = "5",
pages = "2039-2048",
year = "1996"}

@article{Schulze.Scharer1995,
author = "E. Schulze
 and G. Scharer
 and A. Rogatzki
 and L. Priebe
 and S. Lewicka
 and M. Bettendorf
 and W. Hoepffner
 and U. E. Heinrich
 and U. Schwabe",
title = "{Divergence between genotype and phenotype in relatives of patients with
the intron 2 mutation of steroid-21-hydroxylase}",
journal = "Endocr Res",
volume = "21",
pages = "359-364",
year = "1995"}

@article{Owerbach.Ballard1992,
author = "D. Owerbach
 and A. L. Ballard
 and M. B. Draznin",
title = "{Salt-wasting congenital adrenal hyperplasia: detection and
characterization of mutations in the steroid 21-hydroxylase gene,
CYP21, using the polymerase chain reaction}",
journal = "J Clin Endocrinol Metab",
volume = "74",
pages = "553-558",
year = "1992"}

@article{Barbat.Bogyo1995,
author = "B. Barbat
 and A. Bogyo
 and M. C. Raux-Demay
 and F. Kuttenn
 and J. Boue
 and B. Simon-Bouy
 and J. L. Serre
 and E. Mornet",
title = "{Screening of CYP21 gene mutations in 129 French patients affected by
steroid 21-hydroxylase deficiency}",
journal = "Hum Mutat",
volume = "5",
pages = "126-130",
year = "1995"}

@article{Day.Speiser1995,
author = "D. J. Day
 and P. W. Speiser
 and P. C. White
 and F. Barany",
title = "{Detection of steroid 21-hydroxylase alleles using gene-specific PCR and
a multiplexed ligation detection reaction}",
journal = "Genomics",
volume = "29",
pages = "152-162",
year = "1995"}

@article{Speiser.Dupont1992,
author = "P. W. Speiser
 and J. Dupont
 and D. Zhu
 and J. Serrat
 and M. Buegeleisen
 and M. T. Tusie-Luna
 and M. Lesser
 and M. I. New
 and P. C. White",
title = "{Disease expression and molecular genotype in congenital adrenal
hyperplasia due to 21-hydroxylase deficiency}",
journal = "J Clin Invest",
volume = "90",
pages = "584-595",
year = "1992"}

@article{Ozkara.Gravel1995,
author = "H. A. Ozkara
 and B. R. Akerman
 and G. Ciliv
 and M. Topcu
 and Y. Renda
 and R. A. Gravel",
title = "{Donor splice site mutation in intron 5 of the HEXA gene in a Turkish
infant with Tay-Sachs disease}",
journal = "Hum Mutat",
volume = "5",
pages = "186-187",
year = "1995"}

@article{Valcarcel.Singh1993,
author = "J. Valcarcel
 and R. Singh
 and P. D. Zamore
 and M. R. Green",
title = "The protein {Sex}-lethal antagonizes the splicing factor {U2AF} to regulate
alternative splicing of transformer pre-{mRNA}",
journal = "Nature",
volume = "362",
pages = "171-175",
year = "1993"}

@article{Lavigueur.LaBranche1993,
author = "A. Lavigueur
 and M. LaBranche
 and A. R. Kornblihtt
 and B. Chabot",
title = "A splicing enhancer in the human fibronectin alternate {ED1} exon
interacts with {SR} proteins and stimulates {U2} {snRNP} binding",
journal = "Genes Dev",
volume = "7",
pages = "2405-2417",
year = "1993"}

@article{Sun.Mayeda1993,
author = "Q. Sun
 and A. Mayeda
 and R. K. Hampson
 and A. R. Krainer
 and F. M. Rottman",
title = "General splicing factor {SF2/ASF} promotes alternative splicing by
binding to an exonic splicing enhancer",
journal = "Genes Dev",
volume = "7",
pages = "2598-2608",
year = "1993"}

@article{Stephens.Schneider1992,
author = "R. M. Stephens
 and T. D. Schneider",
title = "Features of spliceosome evolution and function inferred from an
analysis of the information at human splice sites",
journal = "J Mol Biol",
volume = "228",
pages = "1124-1136",
year = "1992"}

@article{Tanaka.Watakabe1994,
author = "K. Tanaka
 and A. Watakabe
 and Y. Shimura",
title = "Polypurine sequences within a downstream exon function as a splicing
enhancer",
journal = "Mol Cell Biol",
volume = "14",
pages = "1347-1354",
year = "1994"}

@article{Watakabe.Tanaka1993,
author = "A. Watakabe
 and K. Tanaka
 and Y. Shimura",
title = "The role of exon sequences in splice site selection",
journal = "Genes Dev",
volume = "7",
pages = "407-418",
year = "1993"}

@article{Chiara.Reed1995,
author = "M. D. Chiara
 and R. Reed",
title = "A two-step mechanism for $5'$ and $3'$ splice-site pairing",
journal = "Nature",
volume = "375",
pages = "510-513",
year = "1995"}

@article{Tian.Kole1995,
author = "H. Tian
 and R. Kole",
title = "Selection of novel exon recognition elements from a pool of random
sequences",
journal = "Mol Cell Biol",
volume = "15",
pages = "6291-6298",
year = "1995"}

@article{Mengeritsky.Smith1989,
author = "G. Mengeritsky
 and T. F. Smith",
title = "New analytical tool for analysis of splice site sequence determinants",
journal = "Comput Appl Biosci",
volume = "5",
pages = "97-100",
year = "1989"}

@article{Dirksen.Hampson1994,
author = "W. P. Dirksen
 and R. K. Hampson
 and Q. Sun
 and F. M. Rottman",
title = "A purine-rich exon sequence enhances alternative splicing of bovine
growth hormone pre-{mRNA}",
journal = "J Biol Chem",
volume = "269",
pages = "6431-6436",
year = "1994"}

@article{Ohshima.Gotoh1987,
author = "Y. Ohshima
 and Y. Gotoh",
title = "Signals for the selection of a splice site in pre-{mRNA}. {Computer}
analysis of splice junction sequences and like sequences",
journal = "J Mol Biol",
volume = "195",
pages = "247-259",
year = "1987"}

@article{Achsel.Shimura1996,
author = "T. Achsel
 and Y. Shimura",
title = "Factors involved in the activation of pre-{mRNA} splicing from downstream
splicing enhancers",
journal = "J Biochem (Tokyo)",
volume = "120",
pages = "53-60",
year = "1996"}

@article{Reed1996,
author = "R. Reed",
title = "Initial splice-site recognition and pairing during pre-{mRNA} splicing",
journal = "Curr Opin Genet Dev",
volume = "6",
pages = "215-220",
year = "1996"}

@article{Dominski.Kole1994,
author = "Z. Dominski
 and R. Kole",
title = "Identification and characterization by antisense oligonucleotides of
exon and intron sequences required for splicing",
journal = "Mol Cell Biol",
volume = "14",
pages = "7445-7454",
year = "1994"}

@article{Carlo.Sterner1996,
author = "T. Carlo
 and D. A. Sterner
 and S. M. Berget",
title = "An intron splicing enhancer containing a {G-rich} repeat facilitates
inclusion of a vertebrate micro-exon",
journal = "RNA",
volume = "2",
pages = "342-353",
year = "1996"}

@article{Parent.Zeitlin1987,
author = "A. Parent
 and S. Zeitlin
 and A. Efstratiadis",
title = "Minimal exon sequence requirements for efficient in vitro splicing of
mono-intronic nuclear pre-{mRNA}",
journal = "J Biol Chem",
volume = "262",
pages = "11284-11291",
year = "1987"}

@article{Dirksen.Sun1995,
author = "W. P. Dirksen
 and Q. Sun
 and F. M. Rottman",
title = "Multiple splicing signals control alternative intron retention of
bovine growth hormone pre-{mRNA}",
journal = "J Biol Chem",
volume = "270",
pages = "5346-5352",
year = "1995"}

@article{Domenjoud.Gallinaro1991,
author = "L. Domenjoud
 and H. Gallinaro
 and L. Kister
 and S. Meyer
 and M. Jacob",
title = "Identification of a specific exon sequence that is a major determinant
in the selection between a natural and a cryptic $5'$ splice site",
journal = "Mol Cell Biol",
volume = "11",
pages = "4581-4590",
year = "1991"}

@article{Pasman.Been1996,
author = "Z. Pasman
 and M. D. Been
 and M. A. Garcia-Blanco",
title = "Exon circularization in mammalian nuclear extracts",
journal = "RNA",
volume = "2",
pages = "603-610",
year = "1996"}

@article{Nelson.Green1990,
author = "K. K. Nelson
 and M. R. Green",
title = "Mechanism for cryptic splice site activation during pre-{mRNA} splicing",
journal = "Proc Natl Acad Sci U S A",
volume = "87",
pages = "6253-6257",
year = "1990"}

@article{Niwa.MacDonald1992,
author = "M. Niwa
 and C. C. MacDonald
 and S. M. Berget",
title = "Are vertebrate exons scanned during splice-site selection?",
journal = "Nature",
volume = "360",
pages = "277-280",
year = "1992"}

@article{Humphrey.Bryan1995,
author = "M. B. Humphrey
 and J. Bryan
 and T. A. Cooper
 and S. M. Berget",
title = "A 32-nucleotide exon-splicing enhancer regulates usage of competing $5'$
splice sites in a differential internal exon",
journal = "Mol Cell Biol",
volume = "15",
pages = "3979-3988",
year = "1995"}

@article{Horowitz.Yandell1989,
author = "J. M. Horowitz
 and D. W. Yandell
 and S. H. Park
 and S. Canning
 and P. Whyte
 and K. Buchkovich
 and E. Harlow
 and R. A. Weinberg
 and T. P. Dryja",
title = "{Point mutational inactivation of the retinoblastoma antioncogene}",
journal = "Science",
volume = "243",
pages = "937-940",
year = "1989"}

@article{Xu.Teng1993,
author = "R. Xu
 and J. Teng
 and T. A. Cooper",
title = "The cardiac troponin {T} alternative exon contains a novel purine-rich
positive splicing element",
journal = "Mol Cell Biol",
volume = "13",
pages = "3660-3674",
year = "1993"}

@article{Peterson.Bryman1994,
author = "M. L. Peterson
 and M. B. Bryman
 and M. Peiter
 and C. Cowan",
title = "Exon size affects competition between splicing and cleavage-
polyadenylation in the immunoglobulin mu gene",
journal = "Mol Cell Biol",
volume = "14",
pages = "77-86",
year = "1994"}


@article{Horowitz.Krainer1994,
author = "D. S. Horowitz
 and A. R. Krainer",
title = "Mechanisms for selecting $5'$ splice sites in mammalian pre-{mRNA} splicing",
journal = "Trends Genet",
volume = "10",
pages = "100-106",
year = "1994"}

@article{Galli.Guise1988,
author = "G. Galli
 and J. Guise
 and P. W. Tucker
 and J. R. Nevins",
title = "{Poly(A)} site choice rather than splice site choice governs the
regulated production of {IgM} heavy-chain {RNAs}",
journal = "Proc Natl Acad Sci U S A",
volume = "85",
pages = "2439-2443",
year = "1988"}

@article{Chen.Chasin1994,
author = "I. T. Chen
 and L. A. Chasin",
title = "Large exon size does not limit splicing in vivo",
journal = "Mol Cell Biol",
volume = "14",
pages = "2140-2146",
year = "1994"}

@article{Solovyev.Salamov1994,
author = "V. V. Solovyev
 and A. A. Salamov
 and C. B. Lawrence",
title = "Predicting internal exons by oligonucleotide composition and
discriminant analysis of spliceable open reading frames",
journal = "Nucleic Acids Res",
volume = "22",
pages = "5156-5163",
year = "1994"}

@article{Black1991,
author = "D. L. Black",
title = "Does steric interference between splice sites block the splicing of a
short c-src neuron-specific exon in non-neuronal cells?",
journal = "Genes Dev",
volume = "5",
pages = "389-402",
year = "1991"}

@article{Zhang.Ashiya1996,
author = "L. Zhang
 and M. Ashiya
 and T. G. Sherman
 and P. J. Grabowski",
title = "Essential nucleotides direct neuron-specific splicing of gamma 2 pre-
{mRNA}",
journal = "RNA",
volume = "2",
pages = "682-698",
year = "1996"}

@article{Andreadis.Broderick1995,
author = "A. Andreadis
 and J. A. Broderick
 and K. S. Kosik",
title = "Relative exon affinities and suboptimal splice site signals lead to non-
equivalence of two cassette exons",
journal = "Nucleic Acids Res",
volume = "23",
pages = "3585-3593",
year = "1995"}

@article{Gelfand1990,
author = "M. S. Gelfand",
title = "Computer prediction of the exon-intron structure of mammalian pre-{mRNA}s",
journal = "Nucleic Acids Res",
volume = "18",
pages = "5865-5869",
year = "1990"}

@article{Berget1995,
author = "S. M. Berget",
title = "Exon recognition in vertebrate splicing",
journal = "J Biol Chem",
volume = "270",
pages = "2411-2414",
year = "1995"}

@article{Tsai.Streuli1989,
author = "A. Y. Tsai
 and M. Streuli
 and H. Saito",
title = "Integrity of the exon 6 sequence is essential for tissue-specific
alternative splicing of human leukocyte common antigen pre-{mRNA}",
journal = "Mol Cell Biol",
volume = "9",
pages = "4550-4555",
year = "1989"}

@article{Libri.Piseri1991,
author = "D. Libri
 and A. Piseri
 and M. Y. Fiszman",
title = "Tissue-specific splicing in vivo of the $\beta$-tropomyosin gene:
dependence on an RNA secondary structure",
journal = "Science",
volume = "252",
pages = "1842-1845",
year = "1991"}

@article{Kleffe.Hermann1996,
author = "J. Kleffe
 and K. Hermann
 and W. Vahrson
 and B. Wittig
 and V. Brendel",
title = "Logitlinear models for the prediction of splice sites in plant pre-{mRNA}
sequences",
journal = "Nucleic Acids Res",
volume = "24",
pages = "4718-4728",
year = "1996"}

@article{Pret.Fiszman1996,
author = "A. M. Pret
 and M. Y. Fiszman",
title = "Sequence divergence associated with species-specific splicing of the
nonmuscle $\beta$-tropomyosin alternative exon",
journal = "J Biol Chem",
volume = "271",
pages = "11511-11517",
year = "1996"}

@article{Michaud.Reed1993,
author = "S. Michaud
 and R. Reed",
title = "A functional association between the $5'$ and $3'$ splice site is
established in the earliest prespliceosome complex {(E)} in mammals",
journal = "Genes Dev",
volume = "7",
pages = "1008-1020",
year = "1993"}

@article{Liu.Mertz1996,
author = "X. Liu
 and J. E. Mertz",
title = "Sequence of the polypyrimidine tract of the $3'$-terminal $3'$ splicing
signal can affect intron-dependent pre-{mRNA} processing in vivo",
journal = "Nucleic Acids Res",
volume = "24",
pages = "1765-1773",
year = "1996"}

@article{Hasegawa.Kawame1994,
author = "Y. Hasegawa
 and H. Kawame
 and H. Ida
 and T. Ohashi
 and Y. Eto",
title = "Single exon mutation in arylsulfatase A gene has two effects: loss of
enzyme activity and aberrant splicing",
journal = "Hum Genet",
volume = "93",
pages = "415-420",
year = "1994"}

@article{Huh.Hynes1994,
author = "G. S. Huh
 and R. O. Hynes",
title = "Regulation of alternative pre-{mRNA} splicing by a novel repeated
hexanucleotide element",
journal = "Genes Dev",
volume = "8",
pages = "1561-1574",
year = "1994"}

@article{Singh.Valcarcel1995,
author = "R. Singh
 and J. Valcarcel
 and M. R. Green",
title = "Distinct binding specificities and functions of higher eukaryotic
polypyrimidine tract-binding proteins",
journal = "Science",
volume = "268",
pages = "1173-1176",
year = "1995"}

@article{Ramchatesingh.Zahler1995,
author = "J. Ramchatesingh
 and A. M. Zahler
 and K. M. Neugebauer
 and M. B. Roth
 and T. A. Cooper",
title = "A subset of {SR} proteins activates splicing of the cardiac troponin {T}
alternative exon by direct interactions with an exonic enhancer",
journal = "Mol Cell Biol",
volume = "15",
pages = "4898-4907",
year = "1995"}

@article{Krawczak.Reiss1992,
author = "M. Krawczak
 and J. Reiss
 and D. N. Cooper",
title = "The mutational spectrum of single base-pair substitutions in {mRNA}
splice junctions of human genes: causes and consequences",
journal = "Hum Genet",
volume = "90",
pages = "41-54",
year = "1992"}

@article{Carter.Li1996,
author = "M. S. Carter
 and S. Li
 and M. F. Wilkinson",
title = "A splicing-dependent regulatory mechanism that detects translation
signals",
journal = "EMBO J",
volume = "15",
pages = "5965-5975",
year = "1996"}

@article{Adams.Rudner1996,
author = "M. D. Adams
 and D. Z. Rudner
 and D. C. Rio",
title = "Biochemistry and regulation of pre-{mRNA} splicing",
journal = "Curr Opin Cell Biol",
volume = "8",
pages = "331-339",
year = "1996"}

@article{Black1995,
author = "D. L. Black",
title = "Finding splice sites within a wilderness of {RNA}",
journal = "RNA",
volume = "1",
pages = "763-771",
year = "1995"}

@article{Sharp1994,
author = "P. A. Sharp",
title = "Split genes and {RNA} splicing",
journal = "Cell",
volume = "77",
pages = "805-815",
year = "1994"}

@article{Mount1996,
author = "S. M. Mount",
title = "{AT-AC} introns: an {ATtACk} on dogma",
journal = "Science",
volume = "271",
pages = "1690-1692",
year = "1996"}

@article{Santisteban.Arredondo-Vega1995,
author = "I. Santisteban
 and F. X. Arredondo-Vega
 and S. Kelly
 and M. Loubser
 and N. Meydan
 and C. Roifman
 and P. L. Howell
 and T. Bowen
 and K. I. Weinberg
 and M. L. Schroeder
 and M. S. Hershfield",
title = "Three new adenosine deaminase mutations that define a splicing enhancer
and cause severe and partial phenotypes: implications for evolution of
a {CpG} hotspot and expression of a transduced {ADA cDNA}",
journal = "Hum Mol Genet",
volume = "4",
pages = "2081-2087",
year = "1995"}

@article{Higashi.Tanae1988,
author = "Y. Higashi
 and A. Tanae
 and H. Inoue
 and T. Hiromasa
 and Y. Fujii-Kuriyama",
title = "Aberrant splicing and missense mutations cause steroid 21-hydroxylase
{[P-450(C21)]} deficiency in humans: possible gene conversion products",
journal = "Proc Natl Acad Sci U S A",
volume = "85",
pages = "7486-7490",
year = "1988"}

@article{Higashi.Yoshioka1986,
author = "Y. Higashi
 and H. Yoshioka
 and M. Yamane
 and O. Gotoh
 and Y. Fujii-Kuriyama",
title = "Complete nucleotide sequence of two steroid 21-hydroxylase genes
tandemly arranged in human chromosome: a pseudogene and a genuine gene",
journal = "Proc Natl Acad Sci U S A",
volume = "83",
pages = "2841-2845",
year = "1986"}

@article{Naylor.Green1991,
author = "J. A. Naylor
 and P. M. Green
 and A. J. Montandon
 and C. R. Rizza
 and F. Giannelli",
title = "Detection of three novel mutations in two haemophilia A patients by
rapid screening of whole essential region of factor {VIII} gene",
journal = "Lancet",
volume = "337",
pages = "635-639",
year = "1991"}

@article{Yoshitake.Schach1985,
author = "S. Yoshitake
 and B. G. Schach
 and D. C. Foster
 and E. W. Davie
 and K. Kurachi",
title = "Nucleotide sequence of the gene for human factor {IX} (antihemophilic
factor {B})",
journal = "Biochemistry",
volume = "24",
pages = "3736-3750",
year = "1985"}

@article{Youssoufian.KazazianJr1988,
author = "H. Youssoufian
 and H. H. KazazianJr
 and A. Patel
 and S. Aronis
 and G. Tsiftis
 and L. W. Hoyer
 and S. E. Antonarakis",
title = "Mild hemophilia {A} associated with a cryptic donor splice site mutation
in intron 4 of the factor {VIII} gene",
journal = "Genomics",
volume = "2",
pages = "32-36",
year = "1988"}

@article{Karl.Lamberts1993,
author = "M. Karl
 and S. W. Lamberts
 and S. D. Detera-Wadleigh
 and I. J. Encio
 and C. A. Stratakis
 and D. M. Hurley
 and D. Accili
 and G. P. Chrousos",
title = "Familial glucocorticoid resistance caused by a splice site deletion in
the human glucocorticoid receptor gene",
journal = "J Clin Endocrinol Metab",
volume = "76",
pages = "683-689",
year = "1993"}

@article{Akli.Chelly1990,
author = "S. Akli
 and J. Chelly
 and C. Mezard
 and S. Gandy
 and A. Kahn
 and L. Poenaru",
title = "{A ``G'' to ``A''} mutation at position -1 of a $5'$ splice site in a late
infantile form of {Tay-Sachs} disease",
journal = "J Biol Chem",
volume = "265",
pages = "7324-7330",
year = "1990"}

@article{Ohno.Suzuki1988,
author = "K. Ohno
 and K. Suzuki",
title = "Multiple abnormal $\beta$-hexosaminidase $\alpha$ chain {mRNA}s in a compound-
heterozygous {Ashkenazi Jewish} patient with {Tay-Sachs} disease",
journal = "J Biol Chem",
volume = "263",
pages = "18563-18567",
year = "1988"}

@article{Ohno.Suzuki1988a,
author = "K. Ohno
 and K. Suzuki",
title = "{A splicing defect due to an exon-intron junctional mutation results in
abnormal $\beta$-hexosaminidase $\alpha$ chain mRNAs in Ashkenazi Jewish
patients with Tay-Sachs disease}",
journal = "Biochem Biophys Res Commun",
volume = "153",
pages = "463-469",
year = "1988"}

@article{Myerowitz.Piekarz1985,
author = "R. Myerowitz
 and R. Piekarz
 and E. F. Neufeld
 and T. B. Shows
 and K. Suzuki",
title = "Human $\beta$-hexosaminidase $\alpha$ chain: coding sequence and homology
with the $\beta$ chain",
journal = "Proc Natl Acad Sci U S A",
volume = "82",
pages = "7830-7834",
year = "1985"}

@article{Wakamatsu.Kobayashi1992,
author = "N. Wakamatsu
 and H. Kobayashi
 and T. Miyatake
 and S. Tsuji",
title = "A novel exon mutation in the human $\beta$-hexosaminidase $\beta$ subunit
gene affects $3'$ splice site selection",
journal = "J Biol Chem",
volume = "267",
pages = "2406-2413",
year = "1992"}

@article{Proia1988,
author = "R. L. Proia",
title = "Gene encoding the human $\beta$-hexosaminidase $\beta$ chain: extensive
homology of intron placement in the $\alpha$- and $\beta$-chain genes",
journal = "Proc Natl Acad Sci U S A",
volume = "85",
pages = "1883-1887",
year = "1988"}

@article{Neote.Bapat1988,
author = "K. Neote
 and B. Bapat
 and A. Dumbrille-Ross
 and C. Troxel
 and S. M. Schuster
 and D. J. Mahuran
 and R. A. Gravel",
title = "Characterization of the human {HEXB} gene encoding lysosomal $\beta$-
hexosaminidase",
journal = "Genomics",
volume = "3",
pages = "279-286",
year = "1988"}

@article{Kishimoto.O'Conner1989,
author = "T. K. Kishimoto
 and K. O'Conner
 and T. A. Springer",
title = "Leukocyte adhesion deficiency. {Aberrant} splicing of a conserved
integrin sequence causes a moderate deficiency phenotype",
journal = "J Biol Chem",
volume = "264",
pages = "3588-3595",
year = "1989"}

@article{Gotoda.Senda1989,
author = "T. Gotoda
 and M. Senda
 and T. Murase
 and N. Yamada
 and F. Takaku
 and Y. Furuichi",
title = "Gene polymorphism identified by {PvuII} in familial lipoprotein lipase
deficiency",
journal = "Biochem Biophys Res Commun",
volume = "164",
pages = "1391-1396",
year = "1989"}

@article{Bottema.Ketterling1990,
author = "C. D. Bottema
 and R. P. Ketterling
 and H. S. Yoon
 and S. S. Sommer",
title = "{The pattern of factor IX germ-line mutation in Asians is similar to
that of Caucasians}",
journal = "Am J Hum Genet",
volume = "47",
pages = "835-841",
year = "1990"}

@article{Hata.Emi1990,
author = "A. Hata
 and M. Emi
 and G. Luc
 and A. Basdevant
 and P. Gambert
 and P. H. Iverius
 and J. M. Lalouel",
title = "Compound heterozygote for lipoprotein lipase deficiency: {Ser-Thr244}
and transition in $3'$ splice site of intron 2 {(AG-AA)} in the
lipoprotein lipase gene",
journal = "Am J Hum Genet",
volume = "47",
pages = "721-726",
year = "1990"}

@article{Chimienti.Capurso1992,
author = "G. Chimienti
 and A. Capurso
 and F. Resta
 and G. Pepe",
title = "A {G-C} change at the donor splice site of intron 1 causes lipoprotein
lipase deficiency in a southern-{Italian} family",
journal = "Biochem Biophys Res Commun",
volume = "187",
pages = "620-627",
year = "1992"}

@article{Dworniczak.Aulehla-Scholz1991,
author = "B. Dworniczak
 and C. Aulehla-Scholz
 and L. Kalaydjieva
 and K. Bartholome
 and K. Grudda
 and J. Horst",
title = "Aberrant splicing of phenylalanine hydroxylase {mRNA}: the major cause
for phenylketonuria in parts of southern {Europe}",
journal = "Genomics",
volume = "11",
pages = "242-246",
year = "1991"}

@article{Chillon.Casals1995,
author = "M. Chillon
 and T. Casals
 and B. Mercier
 and L. Bassas
 and W. Lissens
 and S. Silber
 and M. C. Romey
 and J. Ruiz-Romero
 and C. Verlingue
 and M. Claustres
 and V. Nunes
 and C. F\'{e}rec
 and X. Estivill",
title = "Mutations in the cystic fibrosis gene in patients with congenital
absence of the vas deferens",
journal = "N Engl J Med",
volume = "332",
pages = "1475-1480",
year = "1995"}

@article{Hruban.vanRiet1994,
author = "R. H. Hruban
 and P. {van der Riet}
 and Y. S. Erozan
 and D. Sidransky",
title = "{Brief report: molecular biology and the early detection of carcinoma of
the bladder--the case of Hubert H. Humphrey}",
journal = "N Engl J Med",
volume = "330",
pages = "1276-1278",
year = "1994"}

@article{Giannelli.Green1991,
author = "F. Giannelli
 and P. M. Green
 and K. A. High
 and S. Sommer
 and D. P. Lillicrap
 and M. Ludwig
 and K. Olek
 and P. H. Reitsma
 and M. Goossens
 and A. Yoshioka
 and G. G. Brownlee",
title = "Haemophilia {B}: database of point mutations and short additions and
deletions--second edition",
journal = "Nucleic Acids Res",
volume = "19",
pages = "2193-2219",
year = "1991"}

@article{Wilton.Chandler1994,
author = "S. D. Wilton
 and D. C. Chandler
 and B. A. Kakulas
 and N. G. Laing",
title = "Identification of a point mutation and germinal mosaicism in a {Duchenne}
muscular dystrophy family",
journal = "Hum Mutat",
volume = "3",
pages = "133-140",
year = "1994"}

@article{Roberts.Bentley1993,
author = "R. G. Roberts
 and D. R. Bentley
 and M. Bobrow",
title = "Infidelity in the structure of ectopic transcripts: a novel exon in
lymphocyte dystrophin transcripts",
journal = "Hum Mutat",
volume = "2",
pages = "293-299",
year = "1993"}

@article{Roberts.Bobrow1992,
author = "R. G. Roberts
 and M. Bobrow
 and D. R. Bentley",
title = "Point mutations in the dystrophin gene",
journal = "Proc Natl Acad Sci U S A",
volume = "89",
pages = "2331-2335",
year = "1992"}

@article{Roberts.Passos-Bueno1993,
author = "R. G. Roberts
 and M. R. Passos-Bueno
 and M. Bobrow
 and M. Vainzof
 and M. Zatz",
title = "Point mutation in a {Becker} muscular dystrophy patient",
journal = "Hum Mol Genet",
volume = "2",
pages = "75-77",
year = "1993"}

@article{Gibbs.Nguyen1990,
author = "R. A. Gibbs
 and P. N. Nguyen
 and A. Edwards
 and A. B. Civitello
 and C. T. Caskey",
title = "Multiplex {DNA} deletion detection and exon sequencing of the
hypoxanthine phosphoribosyltransferase gene in {Lesch-Nyhan} families",
journal = "Genomics",
volume = "7",
pages = "235-244",
year = "1990"}

@article{Gibbs.Nguyen1989,
author = "R. A. Gibbs
 and P. N. Nguyen
 and L. J. McBride
 and S. M. Koepf
 and C. T. Caskey",
title = "Identification of mutations leading to the {Lesch-Nyhan} syndrome by
automated direct {DNA} sequencing of in vitro amplified {cDNA}",
journal = "Proc Natl Acad Sci U S A",
volume = "86",
pages = "1919-1923",
year = "1989"}

@article{Weil.D'Alessio1990,
author = "D. Weil
 and M. D'Alessio
 and F. Ramirez
 and D. R. Eyre",
title = "Structural and functional characterization of a splicing mutation in
the pro-$\alpha$ {2(I)} collagen gene of an {Ehlers-Danlos type VII} patient",
journal = "J Biol Chem",
volume = "265",
pages = "16007-16011",
year = "1990"}

@article{Weil.D'Alessio1989a,
author = "D. Weil
 and M. D'Alessio
 and F. Ramirez
 and W. {de Wet}
 and W. G. Cole
 and D. Chan
 and J. F. Bateman",
title = "{A base substitution in the exon of a collagen gene causes alternative
splicing and generates a structurally abnormal polypeptide in a patient
with Ehlers-Danlos syndrome type VII}",
journal = "EMBO J",
volume = "8",
pages = "1705-1710",
year = "1989"}

@article{Weil.D'Alessio1989b,
author = "D. Weil
 and M. D'Alessio
 and F. Ramirez
 and B. Steinmann
 and M. K. Wirtz
 and R. W. Glanville
 and D. W. Hollister",
title = "Temperature-dependent expression of a collagen splicing defect in the
fibroblasts of a patient with {Ehlers-Danlos} syndrome type {VII}",
journal = "J Biol Chem",
volume = "264",
pages = "16804-16809",
year = "1989"}

@article{Ho.Kong1994,
author = "K. K. Ho
 and R. Y. Kong
 and T. Kuffner
 and L. H. Hsu
 and L. Ma
 and K. S. Cheah",
title = "Further evidence that the failure to cleave the aminopropeptide of type
{I} procollagen is the cause of {Ehlers-Danlos} syndrome type {VII}",
journal = "Hum Mutat",
volume = "3",
pages = "358-364",
year = "1994"}

@article{Vasan.Kuivaniemi1991,
author = "N. S. Vasan
 and H. Kuivaniemi
 and B. E. Vogel
 and R. R. Minor
 and J. A. Wootton
 and G. Tromp
 and R. Weksberg
 and D. J. Prockop",
title = "{A mutation in the pro $\alpha$ 2(I) gene (COL1A2) for type I procollagen
in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping
of exon 6 in RNA splicing may be a common cause of the phenotype}",
journal = "Am J Hum Genet",
volume = "48",
pages = "305-317",
year = "1991"}

@article{Lehmann.Mundlos1994,
author = "H. W. Lehmann
 and S. Mundlos
 and A. Winterpacht
 and R. E. Brenner
 and B. Zabel
 and P. K. Muller",
title = "{Ehlers-Danlos syndrome type VII: phenotype and genotype}",
journal = "Arch Dermatol Res",
volume = "286",
pages = "425-428",
year = "1994"}

@article{Nicholls.Oliver1991,
author = "A. C. Nicholls
 and J. Oliver
 and D. V. Renouf
 and J. McPheat
 and A. Palan
 and F. M. Pope",
title = "{Ehlers-Danlos syndrome type VII: a single base change that causes exon
skipping in the type I collagen $\alpha$ 2(I) chain}",
journal = "Hum Genet",
volume = "87",
pages = "193-198",
year = "1991"}

@article{Watson.Wallis1992,
author = "R. B. Watson
 and G. A. Wallis
 and D. F. Holmes
 and D. Viljoen
 and P. H. Byers
 and K. E. Kadler",
title = "{Ehlers Danlos syndrome type VIIB. Incomplete cleavage of abnormal type
I procollagen by N-proteinase in vitro results in the formation of
copolymers of collagen and partially cleaved pNcollagen that are near
circular in cross-section}",
journal = "J Biol Chem",
volume = "267",
pages = "9093-9100",
year = "1992"}

@article{Ganguly.Baldwin1991,
author = "A. Ganguly
 and C. T. Baldwin
 and D. Strobel
 and D. Conway
 and W. Horton
 and D. J. Prockop",
title = "{Heterozygous mutation in the G${}^{+5}$ position
of intron 33 of the pro-$\alpha$
2(I) gene (COL1A2) that causes aberrant RNA splicing and lethal
osteogenesis imperfecta. Use of carbodiimide methods that decrease the
extent of {DNA} sequencing necessary to define an unusual mutation}",
journal = "J Biol Chem",
volume = "266",
pages = "12035-12040",
year = "1991"}

@article{Nijbroek.Sood1995,
author = "G. Nijbroek
 and S. Sood
 and I. McIntosh
 and C. A. Francomano
 and E. Bull
 and L. Pereira
 and F. Ramirez
 and R. E. Pyeritz
 and H. C. Dietz",
title = "{Fifteen novel FBN1 mutations causing Marfan syndrome detected by
heteroduplex analysis of genomic amplicons}",
journal = "Am J Hum Genet",
volume = "57",
pages = "8-21",
year = "1995"}

@article{Klein.Shows1989,
author = "J. L. Klein
 and T. B. Shows
 and B. Dupont
 and J. A. Trapani",
title = "{Genomic organization and chromosomal assignment for a serine protease
gene (CSPB) expressed by human cytotoxic lymphocytes}",
journal = "Genomics",
volume = "5",
pages = "110-117",
year = "1989"}

@article{Wen.Osumi1990,
author = "J. K. Wen
 and T. Osumi
 and T. Hashimoto
 and M. Ogata",
title = "{Molecular analysis of human acatalasemia. Identification of a splicing
mutation}",
journal = "J Mol Biol",
volume = "211",
pages = "383-393",
year = "1990"}

@article{Cogan.Phillips3d1993,
author = "J. D. Cogan
 and J. A. Phillips3d
 and N. Sakati
 and H. Frisch
 and E. Schober
 and R. D. Milner",
title = "{Heterogeneous growth hormone (GH) gene mutations in familial GH
deficiency}",
journal = "J Clin Endocrinol Metab",
volume = "76",
pages = "1224-1228",
year = "1993"}

@article{Kobayashi.Jackson1990,
author = "K. Kobayashi
 and M. J. Jackson
 and D. B. Tick
 and W. E. O'Brien
 and A. L. Beaudet",
title = "{Heterogeneity of mutations in argininosuccinate synthetase causing
human citrullinemia}",
journal = "J Biol Chem",
volume = "265",
pages = "11361-11367",
year = "1990"}

@article{Kishimoto.Murakami1992,
author = "Y. Kishimoto
 and Y. Murakami
 and K. Hayashi
 and S. Takahara
 and T. Sugimura
 and T. Sekiya",
title = "{Detection of a common mutation of the catalase gene in Japanese
acatalasemic patients}",
journal = "Hum Genet",
volume = "88",
pages = "487-490",
year = "1992"}

@article{Phillips3rd.Cogan1994,
author = "J. A. {Phillips 3rd}
 and J. D. Cogan",
title = "{Genetic basis of endocrine disease. 6. Molecular basis of familial
human growth hormone deficiency}",
journal = "J Clin Endocrinol Metab",
volume = "78",
pages = "11-16",
year = "1994"}

@article{Chen.Liao1989,
author = "E. Y. Chen
 and Y. C. Liao
 and D. H. Smith
 and H. A. Barrera-Saldana
 and R. E. Gelinas
 and P. H. Seeburg",
title = "{The human growth hormone locus: nucleotide sequence, biology, and
evolution}",
journal = "Genomics",
volume = "4",
pages = "479-497",
year = "1989"}

@article{Arredondo-Vega.Santisteban1994,
author = "F. X. Arredondo-Vega
 and I. Santisteban
 and S. Kelly
 and C. M. Schlossman
 and D. T. Umetsu
 and M. S. Hershfield",
title = "{Correct splicing despite mutation of the invariant first nucleotide of
a $5'$ splice site: a possible basis for disparate clinical phenotypes in
siblings with adenosine deaminase deficiency}",
journal = "Am J Hum Genet",
volume = "54",
pages = "820-830",
year = "1994"}

@article{Rogan.Schneider1995,
author = "P. K. Rogan
 and T. D. Schneider",
title = "{Using information content and base frequencies to distinguish mutations
from genetic polymorphisms in splice junction recognition sites}",
journal = "Hum Mutat",
volume = "6",
pages = "74-76",
year = "1995"}

@article{Schneider.Stormo1986,
author = "T. D. Schneider
 and G. D. Stormo
 and L. Gold
 and A. Ehrenfeucht",
title = "{Information content of binding sites on nucleotide sequences}",
journal = "J Mol Biol",
volume = "188",
pages = "415-431",
year = "1986"}

@article{Schneider.Stormo1984,
author = "T. D. Schneider
 and G. D. Stormo
 and M. A. Yarus
 and L. Gold",
title = "{Delila system tools}",
journal = "Nucleic Acids Res",
volume = "12",
pages = "129-140",
year = "1984"}

@article{Stormo.Schneider1982,
author = "G. D. Stormo
 and T. D. Schneider
 and L. Gold
 and A. Ehrenfeucht",
title = "{Use of the 'Perceptron' algorithm to distinguish translational
initiation sites in E. coli}",
journal = "Nucleic Acids Res",
volume = "10",
pages = "2997-3011",
year = "1982"}

@article{Schneider.Stormo1982,
author = "T. D. Schneider
 and G. D. Stormo
 and J. S. Haemer
 and L. Gold",
title = "{A design for computer nucleic-acid-sequence storage, retrieval, and
manipulation}",
journal = "Nucleic Acids Res",
volume = "10",
pages = "3013-3024",
year = "1982"}

@article{Rosbash.Seraphin1991,
author = "M. Rosbash
 and B. Seraphin",
title = "{Who's on first? The U1 {snRNP}-$5'$ splice site interaction and splicing}",
journal = "Trends Biochem Sci",
volume = "16",
pages = "187-190",
year = "1991"}

@article{Schneider.Stephens1990,
author = "T. D. Schneider
 and R. M. Stephens",
title = "{Sequence logos: a new way to display consensus sequences}",
journal = "Nucleic Acids Res",
volume = "18",
pages = "6097-6100",
year = "1990"}

@article{Goguel.Liao1991,
author = "V. Goguel
 and X. L. Liao
 and B. C. Rymond
 and M. Rosbash",
title = "{U1 {snRNP} can influence $3'$-splice site selection as well as $5'$-splice
site selection}",
journal = "Genes Dev",
volume = "5",
pages = "1430-1438",
year = "1991"}

@article{Robberson.Cote1990,
author = "B. L. Robberson
 and G. J. Cote
 and S. M. Berget",
title = "{Exon definition may facilitate splice site selection in RNAs with
multiple exons}",
journal = "Mol Cell Biol",
volume = "10",
pages = "84-94",
year = "1990"}

@article{Talerico.Berget1990,
author = "M. Talerico
 and S. M. Berget",
title = "{Effect of $5'$ splice site mutations on splicing of the preceding intron}",
journal = "Mol Cell Biol",
volume = "10",
pages = "6299-6305",
year = "1990"}

@article{Marvit.DiLella1987,
author = "J. Marvit
 and A. G. DiLella
 and K. Brayton
 and F. D. Ledley
 and K. J. Robson
 and S. L. Woo",
title = "{GT to AT transition at a splice donor site causes skipping of the
preceding exon in phenylketonuria}",
journal = "Nucleic Acids Res",
volume = "15",
pages = "5613-5628",
year = "1987"}

@article{Fishel.Lescoe1993,
author = "R. Fishel
 and M. K. Lescoe
 and M. R. Rao
 and N. G. Copeland
 and N. A. Jenkins
 and J. Garber
 and M. Kane
 and R. Kolodner",
title = "{The human mutator gene homolog MSH2 and its association with hereditary
nonpolyposis colon cancer}",
journal = "Cell",
volume = "75",
pages = "1027-1038",
year = "1993"}

@article{Leach.Nicolaides1993,
author = "F. S. Leach
 and N. C. Nicolaides
 and N. Papadopoulos
 and B. Liu
 and J. Jen
 and R. Parsons
 and P. Peltomaki
 and P. Sistonen
 and L. A. Aaltonen
 and M. Nystrom-Lahti
 and {\em et al}
 and {\rule{0.5em}{1ex}} zzz TODO",
title = "{Mutations of a mutS homolog in hereditary nonpolyposis colorectal
cancer}",
journal = "Cell",
volume = "75",
pages = "1215-1225",
year = "1993"}

@article{Hollstein.Sidransky1991,
author = "M. Hollstein
 and D. Sidransky
 and B. Vogelstein
 and C. C. Harris",
title = "{p53 mutations in human cancers}",
journal = "Science",
volume = "253",
pages = "49-53",
year = "1991"}

@article{Carstens.Fenton1991,
author = "R. P. Carstens
 and W. A. Fenton
 and L. R. Rosenberg",
title = "{Identification of RNA splicing errors resulting in human ornithine
transcarbamylase deficiency}",
journal = "Am J Hum Genet",
volume = "48",
pages = "1105-1114",
year = "1991"}

@article{Audrezet.Mercier1993,
author = "M. P. Audrezet
 and B. Mercier
 and H. Guillermit
 and I. Quere
 and C. Verlingue
 and G. Rault
 and C. Ferec",
title = "{Identification of 12 novel mutations in the CFTR gene}",
journal = "Hum Mol Genet",
volume = "2",
pages = "51-54",
year = "1993"}

@article{Jonsson.Aronovich1995,
author = "J. J. Jonsson
 and E. L. Aronovich
 and S. E. Braun
 and C. B. Whitley",
title = "{Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome)
by automated sequencing and computer-assisted interpretation: toward
mutation mapping of the iduronate-2-sulfatase gene}",
journal = "Am J Hum Genet",
volume = "56",
pages = "597-607",
year = "1995"}

@article{Atweh.Anagnou1985,
author = "G. F. Atweh
 and N. P. Anagnou
 and J. Shearin
 and B. G. Forget
 and R. E. Kaufman",
title = "{Beta-thalassemia resulting from a single nucleotide substitution in an
acceptor splice site}",
journal = "Nucleic Acids Res",
volume = "13",
pages = "777-790",
year = "1985"}

@article{Wong.Antonarakis1989,
author = "C. Wong
 and S. E. Antonarakis
 and S. C. Goff
 and S. H. Orkin
 and B. G. Forget
 and D. G. Nathan
 and P. J. Giardina
 and H. H. KazazianJr",
title = "{Beta-thalassemia due to two novel nucleotide substitutions in consensus
acceptor splice sequences of the $\beta$-globin gene}",
journal = "Blood",
volume = "73",
pages = "914-918",
year = "1989"}

@article{Spritz.Weissman1981,
author = "R. A. Spritz
 and P. Jagadeeswaran
 and P. V. Choudary
 and P. A. Biro
 and J. T. Elder
 and J. K. deRiel
 and J. L. Manley
 and M. L. Gefter
 and B. G. Forget
 and S. M. Weissman",
title = "{Base substitution in an intervening sequence of a $\beta^+$-thalassemic
human globin gene}",
journal = "Proc Natl Acad Sci U S A",
volume = "78",
pages = "2455-2459",
year = "1981"}

@article{Orkin.KazazianJr1982,
author = "S. H. Orkin
 and H. H. KazazianJr
 and S. E. Antonarakis
 and H. Ostrer
 and S. C. Goff
 and J. P. Sexton",
title = "{Abnormal RNA processing due to the exon mutation of $\beta$ E-globin gene}",
journal = "Nature",
volume = "300",
pages = "768-769",
year = "1982"}

@article{Goldsmith.Nienhuis1983,
author = "M. E. Goldsmith
 and R. K. Humphries
 and T. Ley
 and A. Cline
 and J. A. Kantor
 and A. W. Nienhuis",
title = "{``Silent'' nucleotide substitution in a $\beta^+$-thalassemia globin
gene activates splice site in coding sequence RNA}",
journal = "Proc Natl Acad Sci U S A",
volume = "80",
pages = "2318-2322",
year = "1983"}

@article{Treisman.Orkin1983,
author = "R. Treisman
 and S. H. Orkin
 and T. Maniatis",
title = "{Specific transcription and RNA splicing defects in five cloned $\beta$-
thalassaemia genes}",
journal = "Nature",
volume = "302",
pages = "591-596",
year = "1983"}

@article{Atweh.Wong1987,
author = "G. F. Atweh
 and C. Wong
 and R. Reed
 and S. E. Antonarakis
 and D. Zhu
 and P. K. Ghosh
 and T. Maniatis
 and B. G. Forget
 and H. H. KazazianJr",
title = "{A new mutation in IVS-1 of the human $\beta$ globin gene causing $\beta$
thalassemia due to abnormal splicing}",
journal = "Blood",
volume = "70",
pages = "147-151",
year = "1987"}

@article{Tsujino.Servidei1994,
author = "S. Tsujino
 and S. Servidei
 and P. Tonin
 and S. Shanske
 and G. Azan
 and S. DiMauro",
title = "{Identification of three novel mutations in non-Ashkenazi Italian
patients with muscle phosphofructokinase deficiency}",
journal = "Am J Hum Genet",
volume = "54",
pages = "812-819",
year = "1994"}

@article{Yandell.Campbell1989,
author = "D. W. Yandell
 and T. A. Campbell
 and S. H. Dayton
 and R. Petersen
 and D. Walton
 and J. B. Little
 and A. McConkie-Rosell
 and E. G. Buckley 
 and T. P. Dryja",
title = "{Oncogenic point mutations in the human retinoblastoma gene: their application to
genetic counseling}",
journal = "N Engl J Med",
volume = "321",
pages = "1689-1695",
year = "1989"}

@article{Jones.McIntosh1992,
author = "C. T. Jones
 and I. McIntosh
 and M. Keston
 and A. Ferguson
 and D. J. Brock",
title = "{Three novel mutations in the cystic fibrosis gene detected by chemical
cleavage: analysis of variant splicing and a nonsense mutation}",
journal = "Hum Mol Genet",
volume = "1",
pages = "11-17",
year = "1992"}

@article{Trapani.Klein1988,
author = "J. A. Trapani
 and J. L. Klein
 and P. C. White
 and B. Dupont",
title = "{Molecular cloning of an inducible serine esterase gene from human
cytotoxic lymphocytes}",
journal = "Proc Natl Acad Sci U S A",
volume = "85",
pages = "6924-6928",
year = "1988"}

@article{Muntoni.Wiebusch1995,
author = "S. Muntoni
 and H. Wiebusch
 and H. Funke
 and E. Ros
 and U. Seedorf
 and G. Assmann",
title = "{Homozygosity for a splice junction mutation in exon 8 of the gene
encoding lysosomal acid lipase in a {Spanish} kindred with cholesterol
ester storage disease ({CESD})}",
journal = "Hum Genet",
volume = "95",
pages = "491-494",
year = "1995"}

@article{Klima.Ullrich1993,
author = "H. Klima
 and K. Ullrich
 and C. Aslanidis
 and P. Fehringer
 and K. J. Lackner
 and G. Schmitz",
title = "{A splice junction mutation causes deletion of a 72-base exon from the
{mRNA} for lysosomal acid lipase in a patient with cholesteryl ester
storage disease}",
journal = "J Clin Invest",
volume = "92",
pages = "2713-2718",
year = "1993"}

@article{Grandchamp.Picat1989a,
author = "B. Grandchamp 
and C. Picat
and V. Mignotte
and J. Wilson
and K. {Te Velde}
and L. Sandkuyl
and P. Romeo
and M. Goossens
and Y. Nordmann",
title = "{Tissue-specific splicing mutation in acute intermittent porphyria}",
journal = "Proc Natl Acad Sci U S A",
volume = "86",
pages = "661-664",
year = "1989"}

@article{Grandchamp.Picat1989b,
author = "B. Grandchamp
 and C. Picat
 and R. Kauppinen
 and V. Mignotte
 and L. Peltonen
 and P. Mustajoki
 and P. H. Romeo
 and M. Goossens
 and Y. Nordmann",
title = "{Molecular analysis of acute intermittent porphyria in a {Finnish} family
with normal erythrocyte porphobilinogen deaminase}",
journal = "Eur J Clin Invest",
volume = "19",
pages = "415-418",
year = "1989"}

@article{Haber.Buckler1990,
author = "D. A. Haber
 and A. J. Buckler
 and T. Glaser
 and K. M. Call
 and J. Pelletier
 and R. L. Sohn
 and E. C. Douglass
 and D. E. Housman",
title = "{An internal deletion within an 11p13 zinc finger gene contributes to
the development of Wilms' tumor}",
journal = "Cell",
volume = "61",
pages = "1257-1269",
year = "1990"}

@article{Will.Dork1994,
author = "K. Will
 and T. Dork
 and M. Stuhrmann
 and T. Meitinger
 and R. Bertele-Harms
 and B. Tummler
 and J. Schmidtke",
title = "{A novel exon in the cystic fibrosis transmembrane conductance regulator
gene activated by the nonsense mutation E92X in airway epithelial cells
of patients with cystic fibrosis}",
journal = "J Clin Invest",
volume = "93",
pages = "1852-1859",
year = "1994"}

@article{Schloesser.Hofferbert1995,
author = "M. Schloesser
 and S. Hofferbert
 and U. Bartz
 and G. Lutze
 and B. Lammle
 and W. Engel",
title = "{The novel acceptor splice site mutation 11396(G$\rightarrow$A)
in the factor XII
gene causes a truncated transcript in cross-reacting material negative
patients}",
journal = "Hum Mol Genet",
volume = "4",
pages = "1235-1237",
year = "1995"}

@article{He.Grabowski1992,
author = "G. S. He
 and G. A. Grabowski",
title = "{Gaucher disease: A G+1$\rightarrow$A+1 IVS2
splice donor site mutation causing
exon 2 skipping in the acid $\beta$-glucosidase {mRNA}}",
journal = "Am J Hum Genet",
volume = "51",
pages = "810-820",
year = "1992"}

@article{Sakuraba.Eng1992,
author = "H. Sakuraba
 and C. M. Eng
 and R. J. Desnick
 and D. F. Bishop",
title = "{Invariant exon skipping in the human $\alpha$-galactosidase A pre-{mRNA}:
A G+1 to T substitution in a $5'$-splice site causing Fabry disease}",
journal = "Genomics",
volume = "12",
pages = "643-650",
year = "1992"}

@article{Eng.Resnick-Silverman1993,
author = "C. M. Eng
 and L. A. Resnick-Silverman
 and D. J. Niehaus
 and K. H. Astrin
 and R. J. Desnick",
title = "{Nature and frequency of mutations in the $\alpha$-galactosidase A gene
that cause Fabry disease}",
journal = "Am J Hum Genet",
volume = "53",
pages = "1186-1197",
year = "1993"}

@article{MacLeod.Cooke1991,
author = "J. N. MacLeod
 and S. A. Liebhaber
 and M. H. MacGillivray
 and N. E. Cooke",
title = "{Identification of a splice-site mutation in the human growth hormone-
variant gene}",
journal = "Am J Hum Genet",
volume = "48",
pages = "1168-1174",
year = "1991"}

@article{Sun.Knebelmann1993,
author = "F. Sun
 and B. Knebelmann
 and M. E. Pueyo
 and H. Zouali
 and S. Lesage
 and M. Vaxillaire
 and P. Passa
 and D. Cohen
 and G. Velho
 and C. Antignac
 and P. Froguel",
title = "{Deletion of the donor splice site of intron 4 in the glucokinase gene
causes maturity-onset diabetes of the young}",
journal = "J Clin Invest",
volume = "92",
pages = "1174-1180",
year = "1993"}

@article{Flomen.Green1992,
author = "R. H. Flomen
 and P. M. Green
 and D. R. Bentley
 and F. Giannelli
 and E. P. Green",
title = "{Detection of point mutations and a gross deletion in six Hunter
syndrome patients}",
journal = "Genomics",
volume = "13",
pages = "543-550",
year = "1992"}

@article{Bunge.Steglich1993,
author = "S. Bunge
 and C. Steglich
 and C. Zuther
 and M. Beck
 and C. P. Morris
 and E. Schwinger
 and A. Schinzel
 and J. J. Hopwood
 and A. Gal",
title = "{Iduronate-2-sulfatase gene mutations in 16 patients with
mucopolysaccharidosis type II (Hunter syndrome)}",
journal = "Hum Mol Genet",
volume = "2",
pages = "1871-1875",
year = "1993"}

@article{Purandare.Lanyon1995,
author = "S. M. Purandare
 and W. G. Lanyon
 and R. Arngrimsson
 and J. M. Connor",
title = "{Characterisation of a novel splice donor mutation affecting position $+1$
in intron 18 of the NF-1 gene}",
journal = "Hum Mol Genet",
volume = "4",
pages = "767-768",
year = "1995"}

@article{Vidaud.Gattoni1989,
author = "M. Vidaud
 and R. Gattoni
 and J. Stevenin
 and D. Vidaud
 and S. Amselem
 and J. Chibani
 and J. Rosa
 and M. Goossens",
title = "{A $5'$ splice-region G$\rightarrow$C mutation
in exon 1 of the human $\beta$-globin
gene inhibits pre-{mRNA} splicing: a mechanism for $\beta^+$-thalassemia}",
journal = "Proc Natl Acad Sci U S A",
volume = "86",
pages = "1041-1045",
year = "1989"}

@article{Lapoumeroulie.Acuto1987,
author = "C. Lapoumeroulie
 and S. Acuto
 and F. Rouabhi
 and D. Labie
 and R. Krishnamoorthy
 and A. Bank",
title = "{Expression of a $\beta$ thalassemia gene with abnormal splicing}",
journal = "Nucleic Acids Res",
volume = "15",
pages = "8195-8204",
year = "1987"}

@article{Kudo.Fukuda1989,
author = "S. Kudo
 and M. Fukuda",
title = "{Structural organization of glycophorin A and B genes: glycophorin B
gene evolved by homologous recombination at Alu repeat sequences}",
journal = "Proc Natl Acad Sci U S A",
volume = "86",
pages = "4619-4623",
year = "1989"}

@article{Cole.Chiodo1990,
author = "W. G. Cole
 and A. A. Chiodo
 and S. R. Lamande
 and R. Janeczko
 and F. Ramirez
 and H. H. Dahl
 and D. Chan
 and J. F. Bateman",
title = "{A base substitution at a splice site in the COL3A1 gene causes exon
skipping and generates abnormal type III procollagen in a patient with
Ehlers-Danlos syndrome type IV}",
journal = "J Biol Chem",
volume = "265",
pages = "17070-17077",
year = "1990"}

@article{Bonadio.Ramirez1990,
author = "J. Bonadio
 and F. Ramirez
 and M. Barr",
title = "{An intron mutation in the human $\alpha$ 1(I) collagen gene alters the
efficiency of pre-{mRNA} splicing and is associated with osteogenesis
imperfecta type II}",
journal = "J Biol Chem",
volume = "265",
pages = "2262-2268",
year = "1990"}

@article{Bienvenu.Hubert1994,
author = "T. Bienvenu
 and D. Hubert
 and N. Fonknechten
 and D. Dusser
 and J. C. Kaplan
 and C. Beldjord",
title = "{Unexpected inactivation of acceptor consensus splice sequence by a -3 C
to T transition in intron 2 of the CFTR gene}",
journal = "Hum Genet",
volume = "94",
pages = "65-68",
year = "1994"}

@article{Boerkoel.Exelbert1995,
author = "C. F. Boerkoel
 and R. Exelbert
 and C. Nicastri
 and R. C. Nichols
 and F. W. Miller
 and P. H. Plotz
 and N. Raben",
title = "{Leaky splicing mutation in the acid maltase gene is associated with
delayed onset of glycogenosis type II}",
journal = "Am J Hum Genet",
volume = "56",
pages = "887-897",
year = "1995"}

@article{Martiniuk.Bodkin1991,
author = "F. Martiniuk
 and M. Bodkin
 and S. Tzall
 and R. Hirschhorn",
title = "{Isolation and partial characterization of the structural gene for human
acid $\alpha$ glucosidase}",
journal = "DNA Cell Biol",
volume = "10",
pages = "283-292",
year = "1991"}

@article{Huie.Chen1994,
author = "M. L. Huie
 and A. S. Chen
 and S. Tsujino
 and S. Shanske
 and S. DiMauro
 and A. G. Engel
 and R. Hirschhorn",
title = "{Aberrant splicing in adult onset glycogen storage disease type II
(GSDII): molecular identification of an IVS1 (-13T$\rightarrow$G) mutation in a
majority of patients and a novel IVS10 (+1GT$\rightarrow$CT) mutation}",
journal = "Hum Mol Genet",
volume = "3",
pages = "2231-2236",
year = "1994"}

@article{Hoefsloot.Hoogeveen-Westerveld1990,
author = "L. H. Hoefsloot
 and M. Hoogeveen-Westerveld
 and A. J. Reuser
 and B. A. Oostra",
title = "{Characterization of the human lysosomal $\alpha$-glucosidase gene}",
journal = "Biochem J",
volume = "272",
pages = "493-497",
year = "1990"}

@article{Soria.Fontcuberta1993,
author = "J. M. Soria
 and J. Fontcuberta
 and M. Chillon
 and M. Borrell
 and X. Estivill
 and N. Sala",
title = "{Acceptor splice site mutation in the invariant AG of intron 5 of the
protein C gene, causing type I protein C deficiency}",
journal = "Hum Genet",
volume = "92",
pages = "506-508",
year = "1993"}

@article{Nogee.Garnier1994,
author = "L. M. Nogee
 and G. Garnier
 and H. C. Dietz
 and L. Singer
 and A. M. Murphy
 and D. E. deMello
 and H. R. Colten",
title = "{A mutation in the surfactant protein B gene responsible for fatal
neonatal respiratory disease in multiple kindreds}",
journal = "J Clin Invest",
volume = "93",
pages = "1860-1863",
year = "1994"}

@article{Pilot-Matias.Kister1989,
author = "T. J. Pilot-Matias
 and S. E. Kister
 and J. L. Fox
 and K. Kropp
 and S. W. Glasser
 and J. A. Whitsett",
title = "{Structure and organization of the gene encoding human pulmonary
surfactant proteolipid SP-B}",
journal = "DNA",
volume = "8",
pages = "75-86",
year = "1989"}

@article{Ali.Tuncman1994,
author = "M. Ali
 and G. Tuncman
 and N. C. Cross
 and M. Vidailhet
 and I. Bokesoy
 and R. Gitzelmann
 and T. M. Cox",
title = "{Null alleles of the aldolase B gene in patients with hereditary
fructose intolerance}",
journal = "J Med Genet",
volume = "31",
pages = "499-503",
year = "1994"}

@article{Winterpacht.Schwarze1994,
author = "A. Winterpacht
 and U. Schwarze
 and S. Mundlos
 and H. Menger
 and J. Spranger
 and B. Zabel",
title = "{Alternative splicing as the result of a type II procollagen gene
(COL2A1) mutation in a patient with Kniest dysplasia}",
journal = "Hum Mol Genet",
volume = "3",
pages = "1891-1893",
year = "1994"}

@article{Schell.Hehr1995,
author = "U. Schell
 and A. Hehr
 and G. J. Feldman
 and N. H. Robin
 and E. H. Zackai
 and C. {de Die-Smulders}
 and D. H. Viskochil
 and J. M. Stewart
 and G. Wolff
 and H. Ohashi
 and R. A. Price
 and M. M. {Cohen Jr.}
 and N Muenke",
title = "{Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer
syndrome}",
journal = "Hum Mol Genet",
volume = "4",
pages = "323-328",
year = "1995"}

@article{Dunn.Phillips1989,
author = "J. M. Dunn
 and R. A. Phillips
 and X. Zhu
 and A. Becker
 and B. L. Gallie",
title = "{Mutations in the RB1 gene and their effects on transcription}",
journal = "Mol Cell Biol",
volume = "9",
pages = "4596-4604",
year = "1989"}

@article{Weil.Bernard1988,
author = "D. Weil
 and M. Bernard
 and N. Combates
 and M. K. Wirtz
 and D. W. Hollister
 and B. Steinmann
 and F. Ramirez",
title = "{Identification of a mutation that causes exon skipping during collagen
pre-{mRNA} splicing in an Ehlers-Danlos syndrome variant}",
journal = "J Biol Chem",
volume = "263",
pages = "8561-8564",
year = "1988"}

@article{Wijnen.Khan1996,
author = "J. Wijnen
 and P. M. Khan
 and H. Vasen
 and F. Menko
 and D. vanKlift
 and D. vanBroek
 and I. vanLeeuwen- Cornelisse 
 and F. Nagengast
 and E. J. Meijers-Heijboer
 and D. Lindhout
 and G. Griffioen
 and A. Cats
 and J. Kleibeuker
 and L. Varesco
 and L. Bertario
 and M. L. Bisgaard
 and J. Mohr
 and R. Kolodner
 and R. Fodde",
title = "{Majority of hMLH1 mutations responsible for hereditary nonpolyposis
colorectal cancer cluster at the exonic region 15-16}",
journal = "Am J Hum Genet",
volume = "58",
pages = "300-307",
year = "1996"}

@article{Ruby.Abelson1991,
author = "S. W. Ruby
 and J. Abelson",
title = "{Pre-{mRNA} splicing in yeast}",
journal = "Trends Genet",
volume = "7",
pages = "79-85",
year = "1991"}

@article{Jamison.Crow1992,
author = "S. F. Jamison
 and A. Crow
 and M. A. Garcia-Blanco",
title = "{The spliceosome assembly pathway in mammalian extracts}",
journal = "Mol Cell Biol",
volume = "12",
pages = "4279-4287",
year = "1992"}

@article{Lamond.Konarska1987,
author = "A. I. Lamond
 and M. M. Konarska
 and P. A. Sharp",
title = "{A mutational analysis of spliceosome assembly: evidence for splice site
collaboration during spliceosome formation}",
journal = "Genes Dev",
volume = "1",
pages = "532-543",
year = "1987"}

@article{Kuo.Nasim1991,
author = "H. C. Kuo
 and F. H. Nasim
 and P. J. Grabowski",
title = "{Control of alternative splicing by the differential binding of U1 small
nuclear ribonucleoprotein particle}",
journal = "Science",
volume = "251",
pages = "1045-1050",
year = "1991"}

@article{Wu.Maniatis1993,
author = "J. Y. Wu
 and T. Maniatis",
title = "{Specific interactions between proteins implicated in splice site
selection and regulated alternative splicing}",
journal = "Cell",
volume = "75",
pages = "1061-1070",
year = "1993"}

@article{Carothers.Urlaub1993,
author = "A. M. Carothers
 and G. Urlaub
 and D. Grunberger
 and L. A. Chasin",
title = "{Splicing mutants and their second-site suppressors at the dihydrofolate
reductase locus in {Chinese} hamster ovary cells}",
journal = "Mol Cell Biol",
volume = "13",
pages = "5085-5098",
year = "1993"}

@article{Dominski.Kole1991,
author = "Z. Dominski
 and R. Kole",
title = "{Selection of splice sites in pre-{mRNA}s with short internal exons}",
journal = "Mol Cell Biol",
volume = "11",
pages = "6075-6083",
year = "1991"}

@article{Dominski.Kole1992,
author = "Z. Dominski
 and R. Kole",
title = "{Cooperation of pre-{mRNA} sequence elements in splice site selection}",
journal = "Mol Cell Biol",
volume = "12",
pages = "2108-2114",
year = "1992"}

@article{Black1992,
author = "D. L. Black",
title = "{Activation of c-src neuron-specific splicing by an unusual RNA element
in vivo and in vitro}",
journal = "Cell",
volume = "69",
pages = "795-807",
year = "1992"}

@article{Sterner.Berget1993,
author = "D. A. Sterner
 and S. M. Berget",
title = "{In vivo recognition of a vertebrate mini-exon as an exon-intron-exon
unit}",
journal = "Mol Cell Biol",
volume = "13",
pages = "2677-2687",
year = "1993"}

@article{Izaurralde.Lewis1995,
author = "E. Izaurralde
 and J. Lewis
 and C. Gamberi
 and A. Jarmolowski
 and C. McGuigan
 and I. W. Mattaj",
title = "{A cap-binding protein complex mediating U snRNA export}",
journal = "Nature",
volume = "376",
pages = "709-712",
year = "1995"}

@article{Ohno.Sakamoto1987,
author = "M. Ohno
 and H. Sakamoto
 and Y. Shimura",
title = "{Preferential excision of the $5'$ proximal intron from {mRNA} precursors
with two introns as mediated by the cap structure}",
journal = "Proc Natl Acad Sci U S A",
volume = "84",
pages = "5187-5191",
year = "1987"}

@article{Brunak.Engelbrecht1991,
author = "S. Brunak
 and J. Engelbrecht
 and S. Knudsen",
title = "{Prediction of human {mRNA} donor and acceptor sites from the {DNA} sequence}",
journal = "J Mol Biol",
volume = "220",
pages = "49-65",
year = "1991"}

@article{Fu.Maniatis1992,
author = "X. D. Fu
 and T. Maniatis",
title = "{The 35-kDa mammalian splicing factor SC35 mediates specific
interactions between U1 and U2 small nuclear ribonucleoprotein
particles at the $3'$ splice site}",
journal = "Proc Natl Acad Sci U S A",
volume = "89",
pages = "1725-1729",
year = "1992"}

@article{Kohtz.Jamison1994,
author = "J. D. Kohtz
 and S. F. Jamison
 and C. L. Will
 and P. Zuo
 and R. Luhrmann
 and M. A. Garcia-Blanco
 and J. L. Manley",
title = "{Protein-protein interactions and $5'$-splice-site recognition in
mammalian {mRNA} precursors}",
journal = "Nature",
volume = "368",
pages = "119-124",
year = "1994"}

@article{Niwa.Rose1990,
author = "M. Niwa
 and S. D. Rose
 and S. M. Berget",
title = "{In vitro polyadenylation is stimulated by the presence of an upstream
intron}",
journal = "Genes Dev",
volume = "4",
pages = "1552-1559",
year = "1990"}

@article{Niwa.Berget1991,
author = "M. Niwa
 and S. M. Berget",
title = "{Mutation of the AAUAAA polyadenylation signal depresses in vitro
splicing of proximal but not distal introns}",
journal = "Genes Dev",
volume = "5",
pages = "2086-2095",
year = "1991"}

@article{Steitz1992,
author = "J. A. Steitz",
title = "{Splicing takes a holliday}",
journal = "Science",
volume = "257",
pages = "888-889",
year = "1992"}

@article{Zhuang.Weiner1986,
author = "Y. Zhuang
 and A. M. Weiner",
title = "{A compensatory base change in U1 snRNA suppresses a $5'$ splice site
mutation}",
journal = "Cell",
volume = "46",
pages = "827-835",
year = "1986"}

@article{Seraphin.Kretzner1988,
author = "B. Seraphin
 and L. Kretzner
 and M. Rosbash",
title = "{A U1 snRNA:pre-{mRNA} base pairing interaction is required early in yeast
spliceosome assembly but does not uniquely define the $5'$ cleavage site}",
journal = "EMBO J",
volume = "7",
pages = "2533-2538",
year = "1988"}

@article{Shelley.Baralle1987,
author = "C. S. Shelley
 and F. E. Baralle",
title = "{Deletion analysis of a unique $3'$ splice site indicates that alternating
guanine and thymine residues represent an efficient splicing signal}",
journal = "Nucleic Acids Res",
volume = "15",
pages = "3787-3799",
year = "1987"}

@article{Wang.Hoffmann1995,
author = "Z. Wang
 and H. M. Hoffmann
 and P. J. Grabowski",
title = "{Intrinsic U2AF binding is modulated by exon enhancer signals in
parallel with changes in splicing activity}",
journal = "RNA",
volume = "1",
pages = "21-35",
year = "1995"}

@article{Stamm.Zhang1994,
author = "S. Stamm
 and M. Q. Zhang
 and T. G. Marr
 and D. M. Helfman",
title = "{A sequence compilation and comparison of exons that are alternatively
spliced in neurons}",
journal = "Nucleic Acids Res",
volume = "22",
pages = "1515-1526",
year = "1994"}

@article{Hoffman.Grabowski1992,
author = "B. E. Hoffman
 and P. J. Grabowski",
title = "{U1 {snRNP} targets an essential splicing factor, U2AF65, to the $3'$ splice
site by a network of interactions spanning the exon}",
journal = "Genes Dev",
volume = "6",
pages = "2554-2568",
year = "1992"}

@article{Krainer.Conway1990b,
author = "A. R. Krainer
 and G. C. Conway
 and D. Kozak",
title = "{Purification and characterization of pre-{mRNA} splicing factor SF2 from
HeLa cells}",
journal = "Genes Dev",
volume = "4",
pages = "1158-1171",
year = "1990"}

@article{Krainer.Conway1990a,
author = "A. R. Krainer
 and G. C. Conway
 and D. Kozak",
title = "{The essential pre-{mRNA} splicing factor SF2 influences $5'$ splice site
selection by activating proximal sites}",
journal = "Cell",
volume = "62",
pages = "35-42",
year = "1990"}

@article{Ge.Manley1990,
author = "H. Ge
 and J. L. Manley",
title = "{A protein factor, ASF, controls cell-specific alternative splicing of
SV40 early pre-{mRNA} in vitro}",
journal = "Cell",
volume = "62",
pages = "25-34",
year = "1990"}

@article{Zahler.Neugebauer1993,
author = "A. M. Zahler
 and K. M. Neugebauer
 and W. S. Lane
 and M. B. Roth",
title = "{Distinct functions of SR proteins in alternative pre-{mRNA} splicing}",
journal = "Science",
volume = "260",
pages = "219-222",
year = "1993"}

@article{Shapiro.Senapathy1987,
author = "M. B. Shapiro
 and P. Senapathy",
title = "{RNA splice junctions of different classes of eukaryotes: sequence
statistics and functional implications in gene expression}",
journal = "Nucleic Acids Res",
volume = "15",
pages = "7155-7174",
year = "1987"}

@article{Santisteban.Arredondo-Vega1993,
author = "I. Santisteban
 and F. X. Arredondo-Vega
 and S. Kelly
 and A. Mary
 and A. Fischer
 and D. S. Hummell
 and A. Lawton
 and R. U. Sorensen
 and E. R. Stiehm
 and L. Uribe
 and K. Weinberg
 and M. S. Hershfield",
title = "Novel splicing, missense, and deletion mutations in seven adenosine
deaminase-deficient patients with late/delayed onset of combined
immunodeficiency disease. Contribution of genotype to phenotype",
journal = "J Clin Invest",
volume = "92",
pages = "2291-2302",
year = "1993"}

@article{Cladaras.Hadzopoulou-Cladaras1987,
author = "C. Cladaras
 and M. Hadzopoulou-Cladaras
 and B. K. Felber
 and G. Pavlakis
 and V. I. Zannis",
title = "{The molecular basis of a familial apoE deficiency. An acceptor splice
site mutation in the third intron of the deficient apoE gene}",
journal = "J Biol Chem",
volume = "262",
pages = "2310-2315",
year = "1987"}

@article{Mertes.Ludwig1994,
author = "G. Mertes
 and M. Ludwig
 and B. Finkelnburg
 and M. Krawczak
 and R. Schwaab
 and H. H. Brackmann
 and K. Olek",
title = "{A G+3-to-T donor splice site mutation leads to skipping of exon 50 in
von Willebrand factor mRNA}",
journal = "Genomics",
volume = "24",
pages = "190-191",
year = "1994"}

@article{Rave-Harel.Kerem1997,
author = "N. Rave-Harel
 and E. Kerem
 and M. Nissim-Rafinia
 and I. Madjar
 and R. Goshen
 and A. Augarten
 and A. Rahat
 and A. Hurwitz
 and A. Darvasi
 and B. Kerem",
title = "{The molecular basis of partial penetrance of splicing mutations in
cystic fibrosis}",
journal = "Am J Hum Genet",
volume = "60",
pages = "87-94",
year = "1997"}

@article{Metherall.Forget1986,
author = "J. E. Metherall
 and F. S. Collins
 and J. Pan
 and S. M. Weissman
 and B. G. Forget",
title = "{Beta zero thalassemia caused by a base substitution that creates an
alternative splice acceptor site in an intron}",
journal = "EMBO J",
volume = "5",
pages = "2551-2557",
year = "1986"}

@article{Hopwood.Gal1993,
author = "J. J. Hopwood
 and S. Bunge
 and C. P. Morris
 and P. J. Wilson
 and C. Steglich
 and M. Beck
 and E. Schwinger
 and A. Gal",
title = "{Molecular basis of mucopolysaccharidosis type II: mutations in the
iduronate-2-sulphatase gene}",
journal = "Hum Mutat",
volume = "2",
pages = "435-442",
year = "1993"}

@article{Cogan.Groop1995,
author = "J. D. Cogan
 and B. Ramel
 and M. Lehto
 and J. Phillips3rd
 and M. Prince
 and R. M. Blizzard
 and R. deTJ
 and M. Brammert
 and L. Groop",
title = "{A recurring dominant negative mutation causes autosomal dominant growth
hormone deficiency--a clinical research center study}",
journal = "J Clin Endocrinol Metab",
volume = "80",
pages = "3591-3595",
year = "1995"}

@article{Lapoumeroulie.Krishnamoorthy1986,
author = "C. Lapoumeroulie
 and J. Pagnier
 and A. Bank
 and D. Labie
 and R. Krishnamoorthy",
title = "{Beta thalassemia due to a novel mutation in IVS 1 sequence donor site
consensus sequence creating a restriction site}",
journal = "Biochem Biophys Res Commun",
volume = "139",
pages = "709-713",
year = "1986"}

@article{Chibani.Goossens1988,
author = "J. Chibani
 and M. Vidaud
 and P. Duquesnoy
 and J. L. Berge-Lefranc
 and M. Pirastu
 and F. Ellouze
 and J. Rosa
 and M. Goossens",
title = "{The peculiar spectrum of $\beta$-thalassemia genes in Tunisia}",
journal = "Hum Genet",
volume = "78",
pages = "190-192",
year = "1988"}

@article{Uberbacher.Mural1991,
author = "E. C. Uberbacher
 and R. J. Mural",
title = "{Locating protein-coding regions in human DNA sequences by a multiple
sensor-neural network approach}",
journal = "Proc Natl Acad Sci U S A",
volume = "88",
pages = "11261-11265",
year = "1991"}

@article{Xu.Mural1994,
author = "Y. Xu
 and R. Mural
 and M. Shah
 and E. Uberbacher",
title = "{Recognizing exons in genomic sequence using GRAIL II}",
journal = "Genet Eng (N Y)",
volume = "16",
pages = "241-253",
year = "1994"}

@book{Box.Draper1987,
author = "G. E. P. Box
 and N. R. Draper",
title = "Empirical Model-Building and Response Surfaces",
publisher = "Wiley",
address = "New York",
year = "1987"} 
% Chapter 3

@book{Box.Tiao1973,
author = "G. E. P. Box
 and G. C. Tiao",
title = "Bayesian Inference in Statistical Analysis",
publisher = "Addison-Wesley",
address = "Reading, Massachusetts",
year = "1973"}
% Chapter 1

@book{Aitchison.Dunsmore1975,
author = "J. Aitchison
 and I. R. Dunsmore",
title = "Statistical Prediction Analysis",
publisher = "Cambridge University Press",
address = "Cambridge",
year = "1975"}

@article{Daniels1987,
author = "H. E. Daniels",
title = "Uniform Approximations for Tail Probabilities",
journal = "Int. Statistical Rev.",
volume = "55",
pages = "37-48",
year = "1987"}

@book{Field.Ronchetti1990,
author = "C. Field
 and E. Ronchetti",
title = "Small Sample Asymptotics: Lecture Notes-Monograph Series Vol. 13",
publisher = "Institute of Mathematical Statistics",
address = "Hayward, California",
year = "1990"}

@book{Kendall.Stuart1979,
author = "M. Kendall
 and A. Stuart",
title = "The Advanced Theory of Statistics",
publisher = "Griffin",
address = "London",
volume = "2",
year = "1979"}
Chapter 24

@article{Lawrence.Reilly1990,
author = "C. E. Lawrence
 and A. A. Reilly",
title = "An Expectation Maximization (EM) Algorithm for the Identification
and C haracterization of Common SItes in Unaligned Biopolymer Sequences",
journal = "Proteins",
volume = "7",
pages = "41-51",
year = "1990"}

@article{Kirkpatrick.Gelatt1984,
author = "S. Kirkpatrick
 and C. D. Gelatt
 and M. P. Vecchi",
title = "Optimization by Simulated Annealing",
journal = "Science",
volume = "220",
pages = "671-680",
year = "1984"}

@article{Lawrence.Altschul1993,
author = "C. E. Lawrence
 and S. F. Altschul
 and M. S. Boguski
 and J. S. Liu
 and A. F. Neuwald",
title = "{Detecting subtle sequence signals: a Gibbs sampling strategy for
multiple alignment}",
journal = "Science",
volume = "262",
pages = "208-214",
year = "1993"}

@article{Wallace.Freeman1987,
author = "C. S. Wallace
 and P. R. Freeman",
title = "Estimation and inference by compact coding",
journal = "J. Royal. Statist. Soc.",
volume = "B49",
pages = "240-252",
year = "1987"}

@article{Gooding.Smith1994,
author = "C. Gooding
 and G. C. Roberts
 and G. Moreau
 and B. Nadal-Ginard
 and C. W. Smith",
title = "{Smooth muscle-specific switching of $\alpha$-tropomyosin mutually
exclusive exon selection by specific inhibition of the strong default
exon}",
journal = "EMBO J",
volume = "13",
pages = "3861-3872",
year = "1994"}

@article{Garcia-Blanco.Jamison1989,
author = "M. A. Garcia-Blanco
 and S. F. Jamison
 and P. A. Sharp",
title = "{Identification and purification of a 62,000-dalton protein that binds
specifically to the polypyrimidine tract of introns}",
journal = "Genes Dev",
volume = "3",
pages = "1874-1886",
year = "1989"}

@article{Anderson.Schmalsteig1985,
author = "D. C. Anderson
 and F. C. Schmalsteig
 and M. J. Finegold
 and B. J. Hughes
 and R. Rothlein
 and L. J. Miller
 and S. Kohl
 and M. F. Tosi
 and R. L. Jacobs
 and T. C. Waldrop
 and et al
 and {\rule{0.5em}{1ex}} zzz TODO",
title = "{The severe and moderate phenotypes of heritable Mac-1, LFA-1
deficiency: their quantitative definition and relation to leukocyte
dysfunction and clinical features}",
journal = "J Infect Dis",
volume = "152",
pages = "668-689",
year = "1985"}

@article{Renda.Kazazian1992,
author = "M. Renda
 and A. Maggio
 and T. C. Warren
 and H. H. Kazazian ",
title = "{Detection of an IVS-1 $3'$ end (G-C) $\beta$-thalassemia mutation
in the AG invariant dinucleotide of the acceptor splice site in a Sicilian
subject}",
journal = "Genomics",
volume = "13",
pages = "234-235",
year = "1992"}

@book{Fox1984,
author = "J. Fox",
title = "Linear Statistical Models and Related Methods",
publisher = "John Wiley \& Sons, Inc.",
address = "N. Y.",
year = "1994"}

@book{Bankier1994,
author = "A. Bankier",
title = "POSSUM Project",
publisher = "Murdoch Inst. for Research into Birth Defects",
address = "Parkville, Australia",
year = "1994"}

@book{Baraitser.Winter1993,
author = "M.  Baraitser
and R. M. Winter",
title = "London Dysmorphology Database",
publisher = "Oxford Univ. Press",
address = "Oxford",
year = "1993"}

@article{Chu.Trapnell1993,
author = "C. S. Chu
 and B. C. Trapnell
 and S. Curristin
 and G. R. Cutting
 and R. G. Crystal",
title = "{Genetic basis of variable exon 9 skipping in cystic fibrosis
transmembrane conductance regulator mRNA}",
journal = "Nat Genet",
volume = "3",
pages = "151-156",
year = "1993"}

@book{Rimoin.Connor1996,
editor = "D. Rimoin, J. M. Connor and R. E.  Pyeritz",
title = "Principles and Practice of Medical Genetics",
publisher = "Churchill Livingstone",
address = "N.Y.",
year = "1996"}

@book{McKusick1996,
author = "V. McKusick",
title = "Mendelian Inheritance of Man",
publisher = "Johns Hopkins Univ. Press and National Center for 
 Biotechnology Information, National Library of Medicine",
address = "Baltimore and Bethesda",
edition = "World Wide Web URL: http://www3.ncbi.nlm.nih.gov/omim/",
year = "1996"}

@book{McCullagh.Nelder1990,
author = "P. McCullagh
and J.A. Nelder",
title = "Generalized Linear Models
(The Monographs on Statistics
and Applied Probability, Vol 37)",
publisher = "Chapman \& Hall",
edition = "2nd",
address = "N.Y.",
source = "List: $59.95 -- Amazon.com Price: $59.95",
year = "1990"}

@article{Foster.Yoshitake1985,
author = "D. C. Foster
 and S. Yoshitake
 and E. W. Davie",
title = "{The nucleotide sequence of the gene for human protein C}",
journal = "Proc Natl Acad Sci U S A",
volume = "82",
pages = "4673-4677",
year = "1985"}

@article{Futreal.Liu1994,
author = "P. A. Futreal
 and Q. Liu
 and D. Shattuck-Eidens
 and C. Cochran
 and K. Harshman
 and S. Tavtigian
 and L. M. Bennett
 and A. Haugen-Strano
 and J. Swensen
 and Y. Miki
 and a. l. et",
title = "{BRCA1 mutations in primary breast and ovarian carcinomas}",
journal = "Science",
volume = "266",
pages = "120-2",
year = "1994"}

@article{Miki.Swensen1994,
author = "Y. Miki
 and J. Swensen
 and D. Shattuck-Eidens
 and P. A. Futreal
 and K. Harshman
 and S. Tavtigian
 and Q. Liu
 and C. Cochran
 and L. M. Bennett
 and W. Ding
 and a. l. et",
title = "{A strong candidate for the breast and ovarian cancer susceptibility
gene BRCA1}",
journal = "Science",
volume = "266",
pages = "66-71",
year = "1994"}

@article{Shattuck-Eidens.McClure1995,
author = "D. Shattuck-Eidens
 and M. McClure
 and J. Simard
 and F. Labrie
 and S. Narod
 and F. Couch
 and K. Hoskins
 and B. Weber
 and L. Castilla
 and M. Erdos
 and a. l. et",
title = "{A collaborative survey of 80 mutations in the BRCA1 breast and ovar
ian
cancer susceptibility gene. Implications for presymptomatic testing and
screening}",
journal = "JAMA",
volume = "273",
pages = "535-41",
year = "1995"}

@article{Castilla.Couch1994,
author = "L. H. Castilla
 and F. J. Couch
 and M. R. Erdos
 and K. F. Hoskins
 and K. Calzone
 and J. E. Garber
 and J. Boyd
 and M. B. Lubin
 and M. L. Deshano
 and L. C. Brody
 and a. l. et",
title = "{Mutations in the BRCA1 gene in families with early-onset breast and
ovarian cancer}",
journal = "Nat Genet",
volume = "8",
pages = "387-91",
year = "1994"}

@article{Serova.Montagna1996,
author = "O. Serova
 and M. Montagna
 and D. Torchard
 and S. A. Narod
 and P. Tonin
 and B. Sylla
 and H. T. Lynch
 and J. Feunteun
 and G. M. Lenoir",
title = "{A high incidence of BRCA1 mutations in 20 breast-ovarian cancer
families}",
journal = "Am J Hum Genet",
volume = "58",
pages = "42-51",
year = "1996"}

@article{Jensen.Thompson1996,
author = "R. A. Jensen
 and M. E. Thompson
 and T. L. Jetton
 and C. I. Szabo
 and R. {van der Meer}
 and B. Helou
 and S. R. Tronick
 and D. L. Page
 and M. C. King
 and J. T. Holt",
title = "{BRCA1 is secreted and exhibits properties of a granin [see comments
]}",
journal = "Nat Genet",
volume = "12",
pages = "303-8",
year = "1996"}

@article{Wu.Wang1996,
author = "L. C. Wu
 and Z. W. Wang
 and J. T. Tsan
 and M. A. Spillman
 and A. Phung
 and X. L. Xu
 and M. C. Yang
 and L. Y. Hwang
 and A. M. Bowcock
 and R. Baer",
title = "{Identification of a RING protein that can interact in vivo with the
BRCA1 gene product}",
journal = "Nat Genet",
volume = "14",
pages = "430-40",
year = "1996"}

@article{Scully.Chen1997,
author = "R. Scully
 and J. Chen
 and A. Plug
 and Y. Xiao
 and D. Weaver
 and J. Feunteun
 and T. Ashley
 and D. M. Livingston",
title = "{Association of BRCA1 with Rad51 in mitotic and meiotic cells}",
journal = "Cell",
volume = "88",
pages = "265-75",
year = "1997"}

@article{Xu.Chambers1997,
author = "C. F. Xu
 and J. A. Chambers
 and H. Nicolai
 and M. A. Brown
 and Y. Hujeirat
 and S. Mohammed
 and S. Hodgson
 and D. P. Kelsell
 and N. K. Spurr
 and D. T. Bishop
 and E. Solomon",
title = "{Mutations and alternative splicing of the BRCA1 gene in UK
breast/ovarian cancer families}",
journal = "Genes Chromosomes Cancer",
volume = "18",
pages = "102-10",
year = "1997"}

@article{Gowen.Johnson1996,
author = "L. C. Gowen
 and B. L. Johnson
 and A. M. Latour
 and K. K. Sulik
 and B. H. Koller",
title = "{Brca1 deficiency results in early embryonic lethality characterized
 by
neuroepithelial abnormalities}",
journal = "Nat Genet",
volume = "12",
pages = "191-4",
year = "1996"}

@article{Liu.Flesken-Nikitin1996,
author = "C. Y. Liu
 and A. Flesken-Nikitin
 and S. Li
 and Y. Zeng
 and W. H. Lee",
title = "{Inactivation of the mouse Brca1 gene leads to failure in the
morphogenesis of the egg cylinder in early postimplantation development}",
journal = "Genes Dev",
volume = "10",
pages = "1835-43",
year = "1996"}

@article{Chen.Chen1995,
author = "Y. Chen
 and C. F. Chen
 and D. J. Riley
 and D. C. Allred
 and P. L. Chen
 and D. {Von Hoff}
 and C. K. Osborne
 and W. H. Lee",
title = "{Aberrant subcellular localization of BRCA1 in breast cancer [see
comments]}",
journal = "Science",
volume = "270",
pages = "789-91",
year = "1995"}

@article{Chen.Li1996,
author = "C. F. Chen
 and S. Li
 and Y. Chen
 and P. L. Chen
 and Z. D. Sharp
 and W. H. Lee",
title = "{The nuclear localization sequences of the BRCA1 protein interact wi
th
the importin-alpha subunit of the nuclear transport signal receptor}",
journal = "J Biol Chem",
volume = "271",
pages = "32863-8",
year = "1996"}

@article{Wilson.Payton1997,
author = "C. A. Wilson
 and M. N. Payton
 and G. S. Elliott
 and F. W. Buaas
 and E. E. Cajulis
 and D. Grosshans
 and L. Ramos
 and D. M. Reese
 and D. J. Slamon
 and F. J. Calzone",
title = "{Differential subcellular localization, expression and biological
toxicity of BRCA1 and the splice variant BRCA1-delta11b}",
journal = "Oncogene",
volume = "14",
pages = "1-16",
year = "1997"}

@article{Boyd.Harris1995,
author = "M. Boyd
 and F. Harris
 and R. McFarlane
 and H. R. Davidson
 and D. M. Black",
title = "{A human BRCA1 gene knockout [letter]}",
journal = "Nature",
volume = "375",
pages = "541-2",
year = "1995"}

@article{Sobol.Stoppa-Lyonnet1996,
author = "H. Sobol
 and D. Stoppa-Lyonnet
 and B. Bressac-de-Paillerets
 and J. P. Peyrat
 and F. Kerangueven
 and N. Janin
 and T. Noguchi
 and F. Eisinger
 and J. M. Guinebretiere
 and J. Jacquemier
 and D. Birnbaum",
title = "{Truncation at conserved terminal regions of BRCA1 protein is associ
ated
with highly proliferating hereditary breast cancers}",
journal = "Cancer Res",
volume = "56",
pages = "3216-9",
year = "1996"}

@article{Smith.Lee1996,
author = "T. M. Smith
 and M. K. Lee
 and C. I. Szabo
 and N. Jerome
 and M. McEuen
 and M. Taylor
 and L. Hood
 and M. C. King",
title = "{Complete genomic sequence and analysis of 117 kb of human DNA
containing the gene BRCA1}",
journal = "Genome Res",
volume = "6",
pages = "1029-49",
year = "1996"}

@article{Thakur.Zhang1997,
author = "S. Thakur
 and H. B. Zhang
 and Y. Peng
 and H. Le
 and B. Carroll
 and T. Ward
 and J. Yao
 and L. M. Farid
 and F. J. Couch
 and R. B. Wilson
 and B. L. Weber",
title = "{Localization of BRCA1 and a splice variant identifies the nuclear
localization signal}",
journal = "Mol Cell Biol",
volume = "17",
pages = "444-52",
year = "1997"}

@article{Serova.Mazoyer1997,
author = "O. M. Serova
 and S. Mazoyer
 and N. Puget
 and V. Dubois
 and P. Tonin
 and Y. Y. Shugart
 and D. Goldgar
 and S. A. Narod
 and H. T. Lynch
 and G. M. Lenoir",
title = "{Mutations in BRCA1 and BRCA2 in breast cancer families: are there m
ore
breast cancer-susceptibility genes?}",
journal = "Am J Hum Genet",
volume = "60",
pages = "486-95",
year = "1997"}

@article{Schubert.Lee1997,
author = "E. L. Schubert
 and M. K. Lee
 and H. C. Mefford
 and R. H. Argonza
 and J. E. Morrow
 and J. Hull
 and J. L. Dann
 and M. C. King",
title = "{BRCA2 in American families with four or more cases of breast or ova
rian
cancer: recurrent and novel mutations, variable expression, penetrance,
and the possibility of families whose cancer is not attributable to
BRCA1 or BRCA2 [see comments]}",
journal = "Am J Hum Genet",
volume = "60",
pages = "1031-40",
year = "1997"}

@article{Durocher.Shattuck-Eidens1996,
author = "F. Durocher
 and D. Shattuck-Eidens
 and M. McClure
 and F. Labrie
 and M. H. Skolnick
 and D. E. Goldgar
 and J. Simard",
title = "{Comparison of BRCA1 polymorphisms, rare sequence variants and/or
missense mutations in unaffected and breast/ovarian cancer populations}",
journal = "Hum Mol Genet",
volume = "5",
pages = "835-42",
year = "1996"}

@article{Barker.Almeida1996,
author = "D. F. Barker
 and E. R. Almeida
 and G. Casey
 and P. R. Fain
 and S. Y. Liao
 and I. Masunaka
 and B. Noble
 and T. Kurosaki
 and H. Anton-Culver",
title = "{BRCA1 R841W: a strong candidate for a common mutation with moderate
phenotype}",
journal = "Genet Epidemiol",
volume = "13",
pages = "595-604",
year = "1996"}

@article{Couch.Weber1996,
author = "F. J. Couch
 and B. L. Weber",
title = "{Mutations and polymorphisms in the familial early-onset breast cancer
(BRCA1) gene. Breast Cancer Information Core}",
journal = "Hum Mutat",
volume = "8",
pages = "8-18",
year = "1996"}

@article{Friedman.Ostermeyer1994,
author = "L. S. Friedman
 and E. A. Ostermeyer
 and C. I. Szabo
 and P. Dowd
 and E. D. Lynch
 and S. E. Rowell
 and M. C. King",
title = "{Confirmation of BRCA1 by analysis of germline mutations linked to
breast and ovarian cancer in ten families}",
journal = "Nat Genet",
volume = "8",
pages = "399-404",
year = "1994"}

@article{Krainer.Silva-Arrieta1997,
author = "M. Krainer
 and S. Silva-Arrieta
 and M. G. FitzGerald
 and A. Shimada
 and C. Ishioka
 and R. Kanamaru
 and D. J. MacDonald
 and H. Unsal
 and D. M. Finkelstein
 and A. Bowcock
 and K. J. Isselbacher
 and D. A. Haber",
title = "{Differential contributions of BRCA1 and BRCA2 to early-onset breast
cancer [see comments]}",
journal = "N Engl J Med",
volume = "336",
pages = "1416-21",
year = "1997"}

@article{Couch.DeShano1997,
author = "F. J. Couch
 and M. L. DeShano
 and M. A. Blackwood
 and K. Calzone
 and J. Stopfer
 and L. Campeau
 and A. Ganguly
 and T. Rebbeck
 and B. L. Weber",
title = "{BRCA1 mutations in women attending clinics that evaluate the risk of
breast cancer [see comments]}",
journal = "N Engl J Med",
volume = "336",
pages = "1409-15",
year = "1997"}

@article{Day.Speiser1996,
author = "D. J. Day
 and P. W. Speiser
 and E. Schulze
 and M. Bettendorf
 and J. Fitness
 and F. Barany
 and P. C. White",
title = "{Identification of non-amplifying CYP21 genes when using PCR-based
diagnosis of 21-hydroxylase deficiency in congenital adrenal
hyperplasia (CAH) affected pedigrees}",
journal = "Hum Mol Genet",
volume = "5",
pages = "2039-2048",
year = "1996"}

@article{Roscigno.Weiner1993,
author = "R. F. Roscigno
 and M. Weiner
 and M. A. Garcia-Blanco",
title = "{A mutational analysis of the polypyrimidine tract of introns. Effects
of sequence differences in pyrimidine tracts on splicing}",
journal = "J Biol Chem",
volume = "268",
pages = "11222-9",
year = "1993"}

@article{Liu.Parsons1994,
author = "B. Liu
 and R. E. Parsons
 and S. R. Hamilton
 and G. M. Petersen
 and H. T. Lynch
 and P. Watson
 and S. Markowitz
 and J. K. Willson
 and J. Green
 and A. {de la Chapelle}
 and a. l. et",
title = "{hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds}
",
journal = "Cancer Res",
volume = "54",
pages = "4590-4",
year = "1994"}

@article{Maliaka.Chudina1996,
author = "Y. K. Maliaka
 and A. P. Chudina
 and N. F. Belev
 and P. Alday
 and N. P. Bochkov
 and J. M. Buerstedde",
title = "{CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC
mutations}",
journal = "Hum Genet",
volume = "97",
pages = "251-5",
year = "1996"}

@article{Han.Maruyama1995,
author = "H. J. Han
 and M. Maruyama
 and S. Baba
 and J. G. Park
 and Y. Nakamura",
title = "{Genomic structure of human mismatch repair gene, hMLH1, and its
mutation analysis in patients with hereditary non-polyposis colorectal
cancer (HNPCC)}",
journal = "Hum Mol Genet",
volume = "4",
pages = "237-42",
year = "1995"}

@article{Kohonen-Corish.Ross1996,
author = "M. Kohonen-Corish
 and V. L. Ross
 and W. F. Doe
 and D. A. Kool
 and E. Edkins
 and I. Faragher
 and J. Wijnen
 and P. M. Khan
 and F. Macrae
 and D. J. {St John}",
title = "{RNA-based mutation screening in hereditary nonpolyposis colorectal
cancer}",
journal = "Am J Hum Genet",
volume = "59",
pages = "818-24",
year = "1996"}

@article{Liu.Parsons1996,
author = "B. Liu
 and R. Parsons
 and N. Papadopoulos
 and N. C. Nicolaides
 and H. T. Lynch
 and P. Watson
 and J. R. Jass
 and M. Dunlop
 and A. Wyllie
 and P. Peltomaki
 and A. {de la Chapelle}
 and S. R. Hamilton
 and B. Vogelstein
 and K. W. Kinzler",
title = "{Analysis of mismatch repair genes in hereditary non-polyposis
colorectal cancer patients [see comments]}",
journal = "Nat Med",
volume = "2",
pages = "169-74",
year = "1996"}

@article{Nystrom-Lahti.Wu1996,
author = "M. Nystrom-Lahti
 and Y. Wu
 and A. L. Moisio
 and R. M. Hofstra
 and J. Osinga
 and J. P. Mecklin
 and H. J. Jarvinen
 and J. Leisti
 and C. H. Buys
 and A. {de la Chapelle}
 and P. Peltomaki",
title = "{DNA mismatch repair gene mutations in 55 kindreds with verified or
putative hereditary non-polyposis colorectal cancer}",
journal = "Hum Mol Genet",
volume = "5",
pages = "763-9",
year = "1996"}

@article{Jager.Bisgaard1997,
author = "A. C. Jager
 and M. L. Bisgaard
 and T. Myrhoj
 and I. Bernstein
 and J. F. Rehfeld
 and F. C. Nielsen",
title = "{Reduced frequency of extracolonic cancers in hereditary nonpolyposis
colorectal cancer families with monoallelic hMLH1 expression}",
journal = "Am J Hum Genet",
volume = "61",
pages = "129-38",
year = "1997"}

@article{Bubb.Curtis1996,
author = "V. J. Bubb
 and L. J. Curtis
 and C. Cunningham
 and M. G. Dunlop
 and A. D. Carothers
 and R. G. Morris
 and S. White
 and C. C. Bird
 and A. H. Wyllie",
title = "{Microsatellite instability and the role of hMSH2 in sporadic
colorectal cancer}",
journal = "Oncogene",
volume = "12",
pages = "2641-9",
year = "1996"}

@article{Borresen.Lothe1995,
author = "A. L. Borresen
 and R. A. Lothe
 and G. I. Meling
 and S. Lystad
 and P. Morrison
 and J. Lipford
 and M. F. Kane
 and T. O. Rognum
 and R. D. Kolodner",
title = "{Somatic mutations in the hMSH2 gene in microsatellite unstable
colorectal carcinomas}",
journal = "Hum Mol Genet",
volume = "4",
pages = "2065-72",
year = "1995"}

@article{Buerstedde.Alday1995,
author = "J. M. Buerstedde
 and P. Alday
 and J. Torhorst
 and W. Weber
 and H. Muller
 and R. Scott",
title = "{Detection of new mutations in six out of 10 Swiss HNPCC families by
genomic sequencing of the hMSH2 and hMLH1 genes}",
journal = "J Med Genet",
volume = "32",
pages = "909-12",
year = "1995"}

@article{Hall.Taylor1994,
author = "N. R. Hall
 and G. R. Taylor
 and P. J. Finan
 and R. D. Kolodner
 and W. F. Bodmer
 and S. E. Cottrell
 and I. Frayling
 and D. T. Bishop",
title = "{Intron splice acceptor site sequence variation in the hereditary non-
polyposis colorectal cancer gene hMSH2 [see comments]}",
journal = "Eur J Cancer",
volume = "30A",
pages = "1550-2",
year = "1994"}

@article{Wahlberg.Nystrom-Lahti1997,
author = "S. S. Wahlberg
 and M. Nystrom-Lahti
 and M. F. Kane
 and R. D. Kolodner
 and P. Peltomaki
 and A. Lindblom",
title = "{Low frequency of hMSH2 mutations in Swedish HNPCC families [letter]}",
journal = "Int J Cancer",
volume = "74",
pages = "134-7",
year = "1997"}

@article{Tannergard.Lipford1995,
author = "P. Tannergard
 and J. R. Lipford
 and R. Kolodner
 and J. E. Frodin
 and M. Nordenskjold
 and A. Lindblom",
title = "{Mutation screening in the hMLH1 gene in Swedish hereditary
nonpolyposis colon cancer families}",
journal = "Cancer Res",
volume = "55",
pages = "6092-6",
year = "1995"}

@article{Luce.Marra1995,
author = "M. C. Luce
 and G. Marra
 and D. P. Chauhan
 and L. Laghi
 and J. M. Carethers
 and S. P. Cherian
 and M. Hawn
 and C. G. Binnie
 and L. N. Kam-Morgan
 and M. C. Cayouette
 and {\emph{et al}}
 and {\rule{0.5em}{1ex}} zzz TODO",
title = "{In vitro transcription/translation assay for the screening of
hMLH1 and hMSH2 mutations in familial colon cancer}",
journal = "Gastroenterology",
volume = "109",
pages = "1368-1374",
year = "1995"}

@article{Lynch.Smyrk1993,
author = "H. T. Lynch
 and T. C. Smyrk
 and P. Watson
 and S. J. Lanspa
 and J. F. Lynch
 and P. M. Lynch
 and R. J. Cavalieri
 and C. R. Boland",
title = "{Genetics, natural history, tumor spectrum, and pathology of hereditary
nonpolyposis colorectal cancer: an updated review}",
journal = "Gastroenterology",
volume = "104",
pages = "1535-49",
year = "1993"}

@article{Lynch.Smyrk1996,
author = "H. T. Lynch
 and T. Smyrk",
title = "{Hereditary nonpolyposis colorectal cancer (Lynch syndrome). An updated
review}",
journal = "Cancer",
volume = "78",
pages = "1149-67",
year = "1996"}