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- W3030495854 abstract "目的 探讨常染色体隐性遗传早发性帕金森综合征(autosomal recessive early-onset parkinsonism,AREP)parkin基因外显子重排突变情况.方法应用荧光半定量聚合酶链反应(PCR)方法对18个AREP家系进行parkin基因外显子重排突变分析.结果9个AREP家系含有parkin基因外显子重排突变,其中2个家系为外显子4纯合缺失,2个家系为外显子4杂合缺失,2个家系为外显子2杂合缺失,1家系为外显子3杂合缺失,1家系为外显子1杂合缺失,此外,1家系为外显子3和外显子4的复合杂合缺失.未见parkin基因外显子重复突变.结论我国AREP患者存在parkin基因外显子重排突变;parkin基因外显子重排突变可能是我国AREP患者的主要致病因素。" @default.
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- W3030495854 date "2006-06-23" @default.
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- W3030495854 title "Exon rearrangement analysis of parkin gene in patients with autosomal recessive early-onset parkinsonism using fluorescent semi-quantitative PCR" @default.
- W3030495854 doi "https://doi.org/10.3760/j.issn:1006-7876.2006.06.002" @default.
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