New mutations in the ataxia telangiectasia gene
β Scribed by A. Baumer; Ulrike Bernthaler; Werner Wolz; Holger Hoehn; Detlev Schindler
- Publisher
- Springer
- Year
- 1996
- Tongue
- English
- Weight
- 77 KB
- Volume
- 98
- Category
- Article
- ISSN
- 0340-6717
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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
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