TMEM230 基因在日本家族性帕金森病患者中的遗传分析。
Genetic analysis of TMEM230 in Japanese patients with familial Parkinson's disease.
机构信息
Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan.
Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan; Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan.
出版信息
Parkinsonism Relat Disord. 2018 Mar;48:107-108. doi: 10.1016/j.parkreldis.2017.12.020. Epub 2017 Dec 19.
We investigated the prevalence of TMEM230, a novel pathogenic mutation in autosomal dominant Parkinson's disease (PD) by screening 182 Japanese patients, in which no coding mutations were detected. Reviewing with previous studies, our findings suggest that TMEM230 mutations may not play a role in the development of familial PD.
我们通过筛查 182 名日本患者，调查了常染色体显性帕金森病 (PD) 中的新型致病性突变 TMEM230 的患病率，其中未检测到编码突变。结合以往的研究，我们的发现表明 TMEM230 突变可能不会在家族性 PD 的发展中起作用。
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