Article
Functional consequences of sequence alterations in the ATM gene.
DNA repair - 1 Jan 2000
Lavin Martin F, Scott Shaun, Gueven Nuri, Kozlov Sergei, Peng Cheng, Chen Philip
Abstract excerpt
The product of the gene (ATM) mutated in the human genetic disorder ataxia-telangiectasia (A-T) is a high molecular weight, protein ( approximately 350kDa) containing a C-terminal protein kinase domain and a number of other putative domains not yet functionally defined. The majority of ATM gene mutations in A-T patients are truncating, resulting in prematurely terminated products that are highly unstable....
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