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Three novel and six common mutations in 11 patients with methylmalonic acidemia

✍ Scribed by AZUSA KOBAYASHI; HIROAKI KAKINUMA; HIROAKI TAKAHASHI


Book ID
108971099
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
96 KB
Volume
48
Category
Article
ISSN
1328-8067

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Six novel ATM mutations in Italian patie
✍ Silvia Saviozzi; Alessandro Saluto; Maria Piane; Sabrina Prudente; Nicola Migone πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 32 KB

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