Nonclassical Splicing Mutations in the Coding and Noncoding Regions of the ATM Gene: Maximum Entropy Estimates of Splice Junction Strengths

Human Mutation

Volumn 23, Issue 1, 2004, Pages 67-76

  Eng, Laura ^a   Coutinho, Gabriela ^a   Nahas, Shareef ^a   Yeo, Gene ^b   Tanouye, Robert ^a   Babaei, Mahnoush ^a   Dörk, Thilo ^c   Burge, Christopher ^b   Gatti, Richard A ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^c HANNOVER MEDICAL SCHOOL   (Germany)

Author keywords

Ataxia telangiectasia; ATM; Mutation screening, splicing, entropy modeling

Indexed keywords

ATM PROTEIN; COMPLEMENTARY DNA; MESSENGER RNA PRECURSOR;

ARTICLE; ATAXIA TELANGIECTASIA; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CODON; ENTROPY; EXON; FOUNDER EFFECT; FRAMESHIFT MUTATION; GENE INSERTION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HUMAN; INTRON; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; UNTRANSLATED REGION;

ATAXIA TELANGIECTASIA; BASE SEQUENCE; ENTROPY; EXONS; HUMANS; INTRONS; MOLECULAR SEQUENCE DATA; MUTATION; RNA SPLICE SITES; RNA SPLICING;

ATAXIA; ATAXIA TELANGIECTASIA;

EID: 0347988093     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10295     Document Type: Article

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