Article
ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.
American journal of human genetics - 1 Feb 1998
Stankovic T, Kidd A M, Sutcliffe A, McGuire G M, Robinson P, Weber P, Bedenham T, Bradwell A R, Easton D F, Lennox G G, Haites N, Byrd P J, Taylor A M
Abstract excerpt
We report the spectrum of 59 ATM mutations observed in ataxia-telangiectasia (A-T) patients in the British Isles. Of 51 ATM mutations identified in families native to the British Isles, 11 were founder mutations, and 2 of these 11 conferred a milder clinical phenotype with respect to both cerebellar degeneration and cellular features. We report, in two A-T families, an ATM mutation (7271T-->G) that may be...
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