Cellular analysis of a novel mutation p. Ser287Tyr in TOR1A in late-onset isolated dystonia

Cellular analysis of a novel mutation p. Ser287Tyr in TOR1A in late-onset isolated dystonia

Background: Variations in TOR1A were thought to be associated with early-onset isolated dystonia. The variant S287Y (NM_000113.2: c.860C > A, p. Ser287Tyr, rs766483672) was found in our late-onset isolated dystonia patient. This missense variant is adjacent to R288Q (c.863G > A, p. Arg288Gln),...

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Bibliographic Details
Main Authors: Longjiang Xu, Zhaoqing Yang, Wenwu Li, Zhiling Luo, Changjun Zhang, Xiaoqin Huang, Shaohui Ma, Yuzhou Long, Yan Chu, Yuan Qian, Xiuyun Wang, Hao Sun
Format: Article
Language:English
Published: Elsevier 2020-07-01
Series:Neurobiology of Disease
Subjects:
Chinese
Late-onset dystonia
TOR1A
Novel mutation
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996120301261

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http://www.sciencedirect.com/science/article/pii/S0969996120301261

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