Article
A single ataxia telangiectasia gene with a product similar to PI-3 kinase.
Science (New York, N.Y.) - 23 Jun 1995
Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, Tagle D A, Smith S, Uziel T, Sfez S, Ashkenazi M, Pecker I, Frydman M, Harnik R, Patanjali S R, Simmons A, Clines G A, Sartiel A, Gatti R A, Chessa L, Sanal O, Lavin M F, Jaspers N G, Taylor A M, Arlett C F, Miki T, Weissman S M, Lovett M, Collins F S, Shiloh Y
Abstract excerpt
A gene, ATM, that is mutated in the autosomal recessive disorder ataxia telangiectasia (AT) was identified by positional cloning on chromosome 11q22-23. AT is characterized by cerebellar degeneration, immunodeficiency, chromosomal instability, cancer predisposition, radiation sensitivity, and cell cycle abnormalities. The disease is genetically heterogeneous, with four complementation groups that have been...
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