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Spinocerebellar ataxia type 21 exists in the Chinese Han population

Recently, mutations in transmembrane protein 240 (TMEM240) were identified as the cause of spinocerebellar ataxia type 21 (SCA21) in several French families. Clinically, SCA21 is characterized as an early-onset, slowly progressive cerebellar syndrome typically associated with cognitive impairment. T...

詳細記述

保存先:
書誌詳細
出版年:Sci Rep
主要な著者: Zeng, Sheng, Zeng, Junsheng, He, Miao, Zeng, Xianfeng, Zhou, Yao, Liu, Zhen, Xia, Kun, Pan, Qian, Jiang, Hong, Shen, Lu, Yan, Xinxiang, Tang, Beisha, Wang, Junling
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group 2016
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4728603/
https://ncbi.nlm.nih.gov/pubmed/26813285
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep19897
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