Diversity of ATM gene mutations detected in patients with ataxia- telangiectasia

Human Mutation

Volumn 10, Issue 2, 1997, Pages 100-107

  Concannon, Patrick ^a,b   Gatti, Richard A ^c  

^a BENAROYA RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA;

ARTICLE; ATAXIA TELANGIECTASIA; AUTOSOMAL RECESSIVE DISORDER; GENE MUTATION; GENETIC SCREENING; HETEROZYGOTE; HUMAN; PRIORITY JOURNAL; RNA SPLICING;

ATAXIA TELANGIECTASIA; CELL CYCLE PROTEINS; DNA-BINDING PROTEINS; FORECASTING; HETEROZYGOTE; HUMANS; MUTATION; PROTEIN-SERINE-THREONINE KINASES; PROTEINS; TUMOR SUPPRESSOR PROTEINS;

ATAXIA; ATAXIA TELANGIECTASIA;

EID: 0030805899     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)10:2<100::AID-HUMU2>3.0.CO;2-O     Document Type: Article

References (12)

1. Athma P, Rappaport R, Swift M (1996) Molecular genotyping shows that ataxia-telangiectasia heterozygotes are predisposed to breast cancer. Cancer Genet Cytogenet 92:130-134.
2. Baumer A, Bernthaler U, Wolz W, Hoehm H, Schindler D (1996) New mutations in the ataxia telangiectasia gene. Hum Genet 98:246-249.
3. Beaudet AL, Tsui L-C (1993) A suggested nomenclature for designating mutations. Hum Mutat 2:245-248.
4. Boder E (1985) Ataxia-telangiectasia: An overview. In Gatti RA, Swift M (eds): Ataxia-Telangiectasia: Genetics, Neuropathology, and Immunology of a Degenerative Disease of Childhood. New York: Alan R. Liss, pp 1-63.
5. Borresen A-L, Anderson TI, Tretli S, Heiberg A, Moller P (1990) Breast and other cancers in Norwegian families with ataxia-telangiectasia. Genes, Chromosomes and Cancer 2:339-340.
6. Byrd PJ, McConville CM, Cooper P, Parkhill J, Stankovic T, McGuire GM, Thick JA (1996) Mutations revealed by sequencing the 5′ half of the gene for ataxia-telangiectasia. Hum Mol Genet 5:145-149.
7. Concannon P, Malhotra U, Charmley P, Reynolds J, Lange K, and Gati RA (1990). The ataxia-telangiectasia gene (ATA) on chromosome 11 is distinct from the ETS-1 gene. Am J Hum Genet 46:789-794.
8. Curry CJR, O'Lague P, Tsai J, Hutchinson HT, Jaspers NGJ, Wara D, Gatti RA (1989) ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome. Am J Hum Genet 45:270-275.
9. Easton DF (1994) Cancer risks in A-T hetero:ygotes. Int J Radiat Biol 66:3177-8182.
10. Foroud T, Wei S, Ziv Y, Sobel E, Lange E, Chao A, Goradia T, Huo Y, Tolun A, Chessa A, Charmley H Sanal O, Salman N, Julier C, Concannon P, McConville C, Taylor M, Shiloh Y, Lange K, Gatti RA (1991) Localization of an ataxia-telangiectasia locus to a 3-cM interval on chromosome 11q23: linkage analysis of 111 families by an international consortium. Am J Hum Genet 49:1263-1279.
11. Gatti RA (1996) Ataxia-telangiectasia. In Seriver CR, Beaudet AL, Sly WS, Valle D (eds): Metabolic and Molecular Basis of Inherited Disease. New York: McGraw-Hill.
12. Gatti RA, Berkel I, Boder E, Bracdt G, Charmley P, Concannon P, Ersoy F, Foroud T, Jaspers NGJ, Lange K, Lathrop GM, Leppert M, Nakamura Y, O'Connell P, Paterson M, Salser W, Sanal O, Silver J, Sparkes RS, Susi E, Weeks DE, Wei S, White R, Yoder F (1988) Localization of an ataxia-telangiectasia gene to chromosome 11q22-23. Nature 336:577-580.