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
β¦ LIBER β¦
Novel mutations in ataxia telangiectasia and AOA2 associated with prolonged survival
β Scribed by Davis, Marie Y.; Keene, C. Dirk; Swanson, Phillip D.; Sheehy, Conor; Bird, Thomas D.
- Book ID
- 121406496
- Publisher
- Elsevier Science
- Year
- 2013
- Tongue
- English
- Weight
- 899 KB
- Volume
- 335
- Category
- Article
- ISSN
- 0022-510X
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