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Splicing Defects in the Ataxia-Telangiectasia Gene, ATM: Underlying Mutations and Consequences

✍ Scribed by Sharon N. Teraoka; Milhan Telatar; Sara Becker-Catania; Teresa Liang; Suna Önengüt; Asli Tolun; Luciana Chessa; Özden Sanal; Eva Bernatowska; Richard A. Gatti; Patrick Concannon

Book ID
117852856
Publisher
American Society of Human Genetics
Year
1999
Tongue
English
Weight
593 KB
Volume
64
Category
Article
ISSN
0002-9297

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✍ 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