【摘 要】
：
The primary cause of A-T is ATM mutations.The ATM protein is a multifunctional,homeostatic protein kinase with a major role in maintaining genome stability, primarily in the response to DNA double-str
【机 构】
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Tel Aviv University University of Pennsylvania,Ph
【出 处】
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The 16th Ataxia-Telangiectasia Workshop (ATW-2015)6th Intern
论文部分内容阅读
The primary cause of A-T is ATM mutations.The ATM protein is a multifunctional,homeostatic protein kinase with a major role in maintaining genome stability, primarily in the response to DNA double-strand breaks (DSBs).
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Ataxia-telangiectasia (A-T) is a neurodegenerative disease with autosomal recessive inheritance and, despite being monogenic, is characterized by a very pleiotropic phenotype.Since the major functions