𝔖 Bobbio Scriptorium
✦   LIBER   ✦

P1.080 Genetic mutations in ataxia–telangiectasia patients

✍ Scribed by S. Karuta; H. Teive; S. Raskin; M.J. Bugallo; W. Arruda


Book ID
117753405
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
61 KB
Volume
15
Category
Article
ISSN
1353-8020

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Diversity of ATM gene mutations detected
✍ Patrick Concannon; Richard A. Gatti 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 161 KB 👁 2 views

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

Six novel ATM mutations in Italian patie
✍ 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