Ataxia-telangiectasia: Phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity

Molecular Genetics and Metabolism

Volumn 70, Issue 2, 2000, Pages 122-133

  Becker Catania, Sara G ^a   Chen, Gang ^b   Hwang, Mee Jeong ^a   Wang, Zhijun ^a   Sun, Xia ^a   Sanal, Ozden ^c   Bernatowska Matuszkiewicz, Eva ^d   Chessa, Luciana ^e   Lee, Eva Y H P ^b   Gatti, Richard A ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

^c HACETTEPE UNIVERSITY   (Turkey)

^d CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^e SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

ATM heterozygote; ATM protein level; Diagnosis; Mutations; Phenotype genotype correlation; Radiosensitivity

Indexed keywords

ALPHA FETOPROTEIN; ATM PROTEIN; CELL PROTEIN; UNCLASSIFIED DRUG;

ADULT; ALLELE; ARTICLE; ATAXIA TELANGIECTASIA; AUTOSOMAL RECESSIVE INHERITANCE; CANCER RISK; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HETEROZYGOSITY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DETERMINATION; PROTEIN EXPRESSION; RADIOSENSITIVITY;

ATAXIA; ATAXIA TELANGIECTASIA;

EID: 0033909670     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2000.2998     Document Type: Article

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