Functional significance of a deep intronic mutation in the ATM gene and evidence for an alternative exon 28a

Human Mutation

Volumn 25, Issue 2, 2005, Pages 118-124

  Coutinho, Gabriela ^a   Xie, Jiuyong ^a   Du, Liutao ^a   Brusco, Alfredo ^b   Krainer, Adrian R ^c   Gatti, Richard A ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF TURIN   (Italy)

^c Howard Hughes Medical Institute Cold Spring Harbor Laboratory Cold Spring Harbor   (United States)

Author keywords

Alternative splicing; AT; Ataxia telangiectasia; ATM; Deep intronic mutation

Indexed keywords

ATM PROTEIN;

ALTERNATIVE RNA SPLICING; ARTICLE; ATAXIA TELANGIECTASIA; ATM GENE; EXON; GENE; GENE MUTATION; HUMAN; HUMAN CELL; INTRON; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ALTERNATIVE SPLICING; ATAXIA TELANGIECTASIA; BASE SEQUENCE; CELL CYCLE PROTEINS; CELL LINE; DNA-BINDING PROTEINS; EXONS; HUMANS; INTRONS; MOLECULAR SEQUENCE DATA; MUTATION; PROTEIN-SERINE-THREONINE KINASES; RNA SPLICE SITES; TUMOR SUPPRESSOR PROTEINS;

ATAXIA; ATAXIA TELANGIECTASIA;

EID: 13444255960     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20170     Document Type: Article

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