Ataxia telangiectasia: More variation at clinical and cellular levels

Clinical Genetics

Volumn 87, Issue 3, 2015, Pages 199-208

  Taylor, A M R ^a   Lam, Z ^a   Last, J I ^a   Byrd, P J ^a  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

Author keywords

Ataxia; ATM; Kinase activity; Telangiectasia

Indexed keywords

ATM PROTEIN; MRE11 PROTEIN; DNA BINDING PROTEIN; MRE11A PROTEIN, HUMAN; RNF168 PROTEIN, HUMAN; UBIQUITIN PROTEIN LIGASE;

ALLELE; ATAXIA TELANGIECTASIA; CANCER SUSCEPTIBILITY; CHILDHOOD; CLINICAL FEATURE; ENZYME ACTIVITY; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; PRIORITY JOURNAL; REVIEW; COMPLICATION; DEFICIENCY; DISEASE COURSE; ENZYME ACTIVATION; GENETICS; METABOLISM; MUTATION; NEOPLASMS; ONSET AGE; PHENOTYPE; SIGNAL TRANSDUCTION;

AGE OF ONSET; ATAXIA TELANGIECTASIA; ATAXIA TELANGIECTASIA MUTATED PROTEINS; DISEASE PROGRESSION; DNA-BINDING PROTEINS; ENZYME ACTIVATION; GENETIC HETEROGENEITY; HUMANS; MUTATION; NEOPLASMS; PHENOTYPE; SIGNAL TRANSDUCTION; UBIQUITIN-PROTEIN LIGASES;

EID: 84922688515     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12453     Document Type: Review

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