𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Characterization of ATM mutations in 41 Nordic families with Ataxia Telangiectasia

✍ Scribed by K. Laake; L. Jansen; J.M. Hahnemann; K. Brøndum-Nielsen; T. Lönnqvist; H. Kääriäinen; R. Sankila; A. Lähdesmäki; L. Hammarström; J. Yuen; S. Tretli; A. Heiberg; J.H. Olsen; M. Tucker; R. Kleinerman; A-L. Børresen-Dale


Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
446 KB
Volume
16
Category
Article
ISSN
1059-7794

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

ATM mutations in patients with ataxia te
✍ Tomonari Sasaki; Huaize Tian; Yoji Kukita; Masakazu Inazuka; Tomoko Tahira; Taka 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 476 KB 👁 2 views

Communicated by Steve S. Sommer ATM has been identified as a gene that is responsible for ataxia telangiectasia (AT), a pleiotropic disorder of autosomal recessive inheritance. While many mutations of this gene in AT patients of various ethnicities have been reported, data on Japanese patients are s

Characterization of MSH2 and MLH1 mutati
✍ Alessandra Viel; Maurizio Genuardi; Eugenia Capozzi; Francesca Leonardi; Alfonso 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 331 KB 👁 2 views

Mismatch repair genes MSH2 and MLH1 are considered to be the two major genes that are responsible for hereditary nonpolyposis colorectal cancer (HNPCC). Germline heterozygous inactivating mutations of MSH2 and MLH1 have been identified previously in a substantial fraction of individuals who are pred