Article
ATM mutations in cancer families.
Cancer research - 15 Sept 1996
Vorechovský I, Luo L, Lindblom A, Negrini M, Webster A D, Croce C M, Hammarström L
Abstract excerpt
Ataxia-telangiectasia (A-T) is a multisystem recessive disease characterized clinically by cerebellar ataxia, oculocutaneous telangiectasias, immunodeficiency, sensitivity to radiomimetic agents, and cancer predisposition. This pleiotropic disorder is caused by mutations in the ATM (mutated in A-T) gene, which is located in the human chromosomal region 11q22-q23. The ATM gene product is a member of a novel family...
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