The ataxia-telangiectasia mutated (ATM) gene, which is mutated in the autosomal recessive disorder ataxia-telangiectasia (AT), was isolated in 1995 by positional cloning. Although in vitro cell fusion studies had suggested that AT was genetically heterogeneous, all AT patients studied to date have b
Mutation analysis of the ATM gene in two Chinese patients with ataxia telangiectasia
โ Scribed by Hong Jiang; Beisha Tang; Kun Xia; Zhengmao Hu; Lu Shen; Jianguang Tang; Guohua Zhao; Yuhu Zhang; Fang Cai; Qian Pan; Zhigao Long; Guo Wang; Heping Dai
- Book ID
- 119301818
- Publisher
- Elsevier Science
- Year
- 2006
- Tongue
- English
- Weight
- 590 KB
- Volume
- 241
- Category
- Article
- ISSN
- 0022-510X
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Mutations in the ATM gene are responsible for the autosomal recessive disorder, ataxia telangiectasia (A-T). Mutations in different ethnic groups are distributed along the entire length of the large, 66 exon ATM gene. In this study, A-T patients from 16 Russian families were assessed for immunologic
Mutations in the ATM gene are responsible for the autosomal recessive syndrome Ataxia Telangiectasia (AT). In a group of 26 classical AT Italian patients studied by protein truncation test (PTT), we identified six new mutations, never reported so far. Mutations -spread over the entire ATM coding seq