P1.080 Genetic mutations in ataxia–telangiectasia patients
✍ Scribed by S. Karuta; H. Teive; S. Raskin; M.J. Bugallo; W. Arruda
- Book ID
- 117753405
- Publisher
- Elsevier Science
- Year
- 2009
- Tongue
- English
- Weight
- 61 KB
- Volume
- 15
- Category
- Article
- ISSN
- 1353-8020
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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
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