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Cellular analysis of a novel mutation p. Ser287Tyr in TOR1A in late-onset isolated dystonia.
Xu, Longjiang; Yang, Zhaoqing; Li, Wenwu; Luo, Zhiling; Zhang, Changjun; Huang, Xiaoqin; Ma, Shaohui; Long, Yuzhou; Chu, Yan; Qian, Yuan; Wang, Xiuyun; Sun, Hao.
Affiliation
  • Xu L; The Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences and Peking Union Medical College, Kunming, China.
  • Yang Z; The Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences and Peking Union Medical College, Kunming, China.
  • Li W; The Department of Neurology, The People's Hospital of ChuXiong Yi Autonomous Prefecture, Chuxiong, China.
  • Luo Z; The Department of Ultrasound, Yunnan Fuwai Cardiovascular Hospital, Kunming, China.
  • Zhang C; Reproductive Medicine Center, Renmin Hospital, Hubei University of Medicine, Shiyan, China.
  • Huang X; The Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences and Peking Union Medical College, Kunming, China.
  • Ma S; The Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences and Peking Union Medical College, Kunming, China.
  • Long Y; The Second People's Hospital of Yunnan Province, Kunming, China.
  • Chu Y; The Second People's Hospital of Yunnan Province, Kunming, China.
  • Qian Y; Yunnan Key Laboratory of Laboratory Medicine, First Affiliated Hospital of Kunming Medical University, Kunming, China.
  • Wang X; The Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences and Peking Union Medical College, Kunming, China.
  • Sun H; The Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences and Peking Union Medical College, Kunming, China. Electronic address: sunhao@imbcams.com.cn.
Neurobiol Dis ; 140: 104851, 2020 07.
Article in En | MEDLINE | ID: mdl-32243914
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Full text: 1 Database: MEDLINE Main subject: Dystonic Disorders / Dystonia / Mutation Limits: Humans / Male / Middle aged Language: En Journal: Neurobiol Dis Journal subject: NEUROLOGIA Year: 2020 Type: Article Affiliation country: China
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Full text: 1 Database: MEDLINE Main subject: Dystonic Disorders / Dystonia / Mutation Limits: Humans / Male / Middle aged Language: En Journal: Neurobiol Dis Journal subject: NEUROLOGIA Year: 2020 Type: Article Affiliation country: China