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LRRK2的常见变异体与散发性帕金森病无关
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作者 Biskup S mueller j.c +2 位作者 Sharma M. T. Gasser 袁海峰 《世界核心医学期刊文摘(神经病学分册)》 2006年第5期13-13,共1页
Multiple mutations in the gene for the leucine-rich repeat kinase (LKRK2) cause autosomal dominant late-onset parkinsonism (PARK8). The Gly2019Ser mutation appears to be common in different populations. To investigate... Multiple mutations in the gene for the leucine-rich repeat kinase (LKRK2) cause autosomal dominant late-onset parkinsonism (PARK8). The Gly2019Ser mutation appears to be common in different populations. To investigate whether this novel gene influences the non-Mendelian sporadic form of Parkinson’s disease, we genotyped 121 single nucleotide polymorphisms comprehensively covering the entire LRRK2 gene region in a set of 340 Parkinson’s disease patients and 680 matched control subjects from Germany. No association could be demonstrated. We have therefore no evidence for the existence of a common variant in LRRK2 that has a strong influence on Parkinson’s disease risk. 展开更多
关键词 散发性帕金森病 变异体 常染色体显性遗传性 单核苷酸多态性 迟发帕金森病 富亮氨酸重复 基因型分析 不同人群 正常对照 证据支持
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