Associated Papers
Functional characterization connects individual patient mutations in ataxia telangiectasia mutated (ATM) with dysfunction of specific DNA double-strand break-repair signaling pathways.
Keimling M et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2011
Modeling ATM mutant proteins from missense changes confirms retained kinase activity.
Barone G et al.
Human Mutation, 2009
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