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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...

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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
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Acesso em linha: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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