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
Characterisation of ATM Mutations in Slavic Ataxia Telangiectasia Patients
β Scribed by Jana Soukupova; Petr Pohlreich; Eva Seemanova
- Book ID
- 107568698
- Publisher
- Humana Press Inc
- Year
- 2011
- Tongue
- English
- Weight
- 209 KB
- Volume
- 13
- Category
- Article
- ISSN
- 1535-1084
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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
Germline mutations in the ATM gene are responsible for the autosomal recessive disorder ataxiatelangiectasia (A-T). In our study, we have determined the ATM mutation spectrum in19 classical A-T patients, including some immigrant populations, as well as 12 of Dutch ethnic origin. Both the protein tru
Communicated by Steve S. Sommer ATM has been identified as a gene that is responsible for ataxia telangiectasia (AT), a pleiotropic disorder of autosomal recessive inheritance. While many mutations of this gene in AT patients of various ethnicities have been reported, data on Japanese patients are s