Article
Predominance of null mutations in ataxia-telangiectasia.
Human molecular genetics - 1 Apr 1996
Gilad S, Khosravi R, Shkedy D, Uziel T, Ziv Y, Savitsky K, Rotman G, Smith S, Chessa L, Jorgensen T J, Harnik R, Frydman M, Sanal O, Portnoi S, Goldwicz Z, Jaspers N G, Gatti R A, Lenoir G, Lavin M F, Tatsumi K, Wegner R D, Shiloh Y, Bar-Shira A
Abstract excerpt
Ataxia-telangiectasia (A-T) is an autosomal recessive disorder involving cerebellar degeneration, immunodeficiency, chromosomal instability, radiosensitivity and cancer predisposition. The responsible gene, ATM, was recently identified by positional cloning and found to encode a putative 350 kDa protein with a Pl 3-kinase-like domain, presumably involved in mediating cell cycle arrest in response to...
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