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Novel mutation in theATMgene in a Malian family with ataxia telangiectasia

✍ Scribed by Landouré, Guida; Mochel, Fanny; Meilleur, Katherine; Ly, Madani; Sangaré, Modibo; Bocoum, Nouhoum; Bagayoko, Koumba; Coulibaly, Thomas; Sarr, Amadou M.; Bâ, Hamidou O.; Coulibaly, Souleymane; Guinto, Cheick O.; Touré, Mahamadou; Traoré, Moussa; Fischbeck, Kenneth H.

Book ID
118784501
Publisher
Springer
Year
2012
Tongue
English
Weight
263 KB
Volume
260
Category
Article
ISSN
0340-5354

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Six novel ATM mutations in Italian patie
Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia
✍ Silvia Saviozzi; Alessandro Saluto; Maria Piane; Sabrina Prudente; Nicola Migone 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 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