散发型亨廷顿病的临床表型及基因分析
摘要
亨廷顿病（Huntington disease，HD）是IT15基因5’末端CAG重复序列不稳定扩展所致。HD致病基因的发现有助于对缺乏家族史的散发型HD患者做出正确诊断。本研究对11例临床诊断的散发型HD患者进行基因学分析，报告如下。
出处
《天津医药》
CAS
北大核心
2010年第11期1006-1007,共2页
Tianjin Medical Journal
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