ATM Gene Founder Haplotypes and Associated Mutations in Polish Families with Ataxia-Telangiectasia
β Scribed by M. Mitui; E. Bernatowska; B. Pietrucha; J. Piotrowska-Jastrzebska; L. Eng; S. Nahas; S. Teraoka; G. Sholty; A. Purayidom; P. Concannon; R. A. Gatti
- Book ID
- 109117792
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 180 KB
- Volume
- 69
- Category
- Article
- ISSN
- 0003-4800
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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
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