Article
DNA repair abnormalities leading to ataxia: shared neurological phenotypes and risk factors.
Neurogenetics - 1 Oct 2014
Gilmore Edward C
Abstract excerpt
Since identification of mutations in the ATM gene leading to ataxia-telangiectasia, enormous efforts have been devoted to discovering the roles this protein plays in DNA repair as well as other cellular functions. Even before the identification of ATM mutations, it was clear that other diseases with different genomic loci had very similar neurological symptoms. There has been significant progress in understanding...
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