ATP13A2 Variants in Early-Onset Parkinson's Disease Patients and Controls

ATP13A2 Variants in Early-Onset Parkinson's Disease Patients and Controls
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DOI:
10.1002/mds.22728
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发表时间:
2009-10-30
期刊:
影响因子:
8.6
通讯作者:
Klein, Christine
Klein, Christine
中科院分区:
医学1区
文献类型:
--
作者:
Djarmati, Ana;Hagenah, Johann;Klein, Christine

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四个与帕金森病(PD)隐性遗传型有关的基因已经被发现,包括最近发现的ATP13A2(PARK9)基因。我们的目标是研究该基因在大量PD患者和对照人群中的作用。我们广泛筛查了112例早发性PD患者ATP13A2编码区全部29个外显子(EOPD;
Four genes responsible for recessively inherited forms of Parkinson's disease (PD) have been identified, including the recently discovered ATP13A2 (PARK9) gene. Our objective was to investigate the role of this gene in a large cohort of PD patients and controls. We extensively screened all 29 exons of the ATP13A2 coding region in 112 patients with early-onset PD (EOPD;