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
β¦ LIBER β¦
Absence of mutations inATM, the gene responsible for ataxia telangiectasia in patients with cerebellar ataxia
β Scribed by S. Hassin-Baer; Anat Bar-Shira; Shlomit Gilad; Yaron Galanty; Rami Khosravi; Alexander Lossos; Nir Giladi; Rafael Weitz; Bruria Ben-Zeev; Yochanan Goldhammer; Yosef Shiloh
- Publisher
- Springer
- Year
- 1999
- Tongue
- English
- Weight
- 37 KB
- Volume
- 246
- Category
- Article
- ISSN
- 0340-5354
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The functional consequences of missense variants are often difficult to predict. This becomes especially relevant when DNA sequence changes are used to determine a diagnosis or prognosis. To analyze the consequences of 12 missense variants in patients with mild forms of ataxia-telangiectasia (A-T),