A high frequency of distinct ATM gene mutations in ataxia- telangiectasia

American Journal of Human Genetics

Volumn 59, Issue 4, 1996, Pages 839-846

  Wright, Jocyndra ^b   Teraoka, Sharon ^b   Onengut, Suna ^b   Tolun, Aslihan ^b   Gatti, Richard A ^b   Ochs, Hans D ^b   Concannon, Patrick ^a  

^a BENAROYA RESEARCH INSTITUTE   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; ATAXIA TELANGIECTASIA; CONTROLLED STUDY; GENE MUTATION; GENETIC COMPLEMENTATION; HETEROZYGOTE; HUMAN; HUMAN CELL; IONIZING RADIATION; MUTATION RATE; PRIORITY JOURNAL;

ATAXIA TELANGIECTASIA; CELL CYCLE PROTEINS; CELL LINE; DNA-BINDING PROTEINS; FIBROBLASTS; FRAMESHIFT MUTATION; GENETIC COMPLEMENTATION TEST; HETEROZYGOTE DETECTION; HUMANS; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN-SERINE-THREONINE KINASES; PROTEINS; TUMOR SUPPRESSOR PROTEINS;

EID: 0029798776     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Beamish H, Lavin MF (1994) Radiosensitivity in ataxia-telangiectasia: anomalies in radiation-induced cell cycle delay. Int J Radiat Biol 65:175-184
2. Boice JD Jr, Monson RR (1977) Breast cancer in women after repeated fluoroscopic examinations of the chest. J Natl Cancer Inst 59:823-832
3. Boice JD Jr, Rosenstein M, Trout ED (1978) Examination of breast doses and breast cancer risk associated with repeated fluoroscopic chest examinations of women with tuberculosis. Radiat Res 73:373-390
4. Bootsma D, Weeda G, Vermeulen W, van Vuuren H, Troelstra C, van der Spek P, Hoeijmakers J (1995) Nucleotide excision repair syndromes: molecular basis and clinical symptoms. Philos Trans R Soc Lond 347:75-81
5. Borresen A-L, Andersen TI, Tretli S, Helberg A, Moller P (1990) Breast cancer and other cancers in Norwegian fami-lies with ataxia-telangiectasia. Genes Chromosom Cancer 2:339-340