Slow Progression of Ataxia-Telangiectasia with Double Missense and in Frame Splice Mutations

American Journal of Medical Genetics

Volumn 126 A, Issue 3, 2004, Pages 272-277

  Dörk, Thilo ^a   Bendix Waltes, Regina ^a   Wegner, Rolf Dieter ^b,d   Stumm, Markus ^c,d  

^a HANNOVER MEDICAL SCHOOL   (Germany)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c OTTO VON GUERICKE UNIVERSITY   (Germany)

^d Center for Prenatal Diagnosis   (Germany)

Author keywords

A T variant; Ataxia telangiectasia; ATM function

Indexed keywords

BLEOMYCIN; PROTEIN P53;

ADULT; ARTICLE; ATAXIA TELANGIECTASIA; ATM GENE; CASE REPORT; CELL KINETICS; CYTOGENETICS; DISEASE COURSE; ENZYME ACTIVITY; GENE; GENETIC CODE; GENETIC STABILITY; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; LYMPHOBLASTOID CELL; MALE; MISSENSE MUTATION; NEUROLOGIC EXAMINATION; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; REGULATORY MECHANISM; SURVIVAL RATE;

ATAXIA; ATAXIA TELANGIECTASIA;

EID: 1842614985     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20601     Document Type: Article

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