Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: Mutations with increased cancer risk

Human Mutation

Volumn 30, Issue 1, 2009, Pages 12-21

  Mitui, M ^a   Nahas, S A ^a   Du, L T ^a   Yang, Z ^a   Lai, C H ^a   Nakamura, K ^a   Arroyo, S ^a   Scott, S ^b   Purayidom, A ^a   Concannon, P ^c   Lavin, M ^d   Gatti, Richard A ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF VIRGINIA   (United States)

^d UNIVERSITY OF QUEENSLAND   (Australia)

Author keywords

ATM; Cancer risk; Missense mutations; Mutagenesis

Indexed keywords

ATM PROTEIN;

ARTICLE; ATAXIA TELANGIECTASIA; CANCER RISK; CONTROLLED STUDY; DNA POLYMORPHISM; ENZYME ACTIVITY; GENE MUTATION; GENETIC TRANSCRIPTION; GENETIC TRANSFECTION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; IONIZING RADIATION; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; RADIOSENSITIVITY; SCORING SYSTEM; SITE DIRECTED MUTAGENESIS;

ATAXIA TELANGIECTASIA; CELL CYCLE PROTEINS; COMPUTATIONAL BIOLOGY; DNA-BINDING PROTEINS; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOTYPE; HUMANS; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; NEOPLASMS; PHENOTYPE; PROTEIN-SERINE-THREONINE KINASES; RISK FACTORS; TRANSFECTION; TUMOR SUPPRESSOR PROTEINS;

ATAXIA TELANGIECTASIA;

EID: 58349092535     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20805     Document Type: Article

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