SMPD1 variants in Chinese Han patients with sporadic Parkinson's disease

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• 作者：Cheng-yuan Mao^a ; ^b ; ¹ ; Jing Yang^a ; ^b ; ¹ ; Hui Wang^a ; ^b ; ¹ ; Shu-yu Zhang^a ; ^b ; Zhi-hua Yang^a ; ^b ; Hai-yang Luo^a ; ^b ; Fang Li^a ; ^b ; Mengmeng Shi^a ; ^b ; Yu-tao Liu^a ; Zheng-ping Zhuang^c ; Pan Du^d ; Yao-he Wang^d ; Chang-he Shi^a ; ^b ; ^{shichanghe@gmail.com} ; Yu-ming Xu^a ; ^{xuyuming@zzu.edu.cn}
• 关键词：Parkinson's disease ; SMPD1 ; Variant ; Chinese population
• 刊名：Parkinsonism & Related Disorders
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：34
• 期：Complete
• 页码：59-61
• 全文大小：196 K
• 卷排序：34

文摘

We sequenced SMPD1 in 512 Chinese PD patients and 495 matched healthy controls. We identified Leu-Ala (Val) repeat variants and six single nucleotide variants. We identified the association between Leu-Ala (Val) repeat variants in SMPD1and PD.