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.

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...

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Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1998
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1376883/
https://ncbi.nlm.nih.gov/pubmed/9463314
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