Article
Cellular responses to ionising radiation of AT heterozygotes: differences between missense and truncating mutation carriers.
British journal of cancer - 23 Feb 2004
Fernet M, Moullan N, Lauge A, Stoppa-Lyonnet D, Hall J
Abstract excerpt
It has been estimated that approximately 1% of the general population are ataxia telangiectasia (AT) mutated (ATM) heterozygotes. The ATM protein plays a central role in DNA-damage response pathways; however, the functional consequences of the presence of either heterozygous truncating or missens...
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