【摘 要】
：
Cerebellar atrophy is the major, most devastating clinical feature of A-T,characterized by gradual relentless loss of Purkinje and granular neurons.Most ATM mutations leading to classical A-T truncate
【机 构】
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Tel Aviv University Columbia University
【出 处】
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The 16th Ataxia-Telangiectasia Workshop (ATW-2015)6th Intern
论文部分内容阅读
Cerebellar atrophy is the major, most devastating clinical feature of A-T,characterized by gradual relentless loss of Purkinje and granular neurons.Most ATM mutations leading to classical A-T truncate the ATM protein, and the instability of truncated ATM leaves most patients with no ATM protein at all.
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