Identifying SYNE1 Ataxia With Novel Mutations in a Chinese Population

Objective: Variants in SYNE1 have been widely reported in ataxia patients in Europe, with highly variable clinical phenotype. Until now, no mutation of SYNE1 ataxia has been reported among the Chinese population. Our aim was to screen for SYNE1 ataxia patients in China and extend the clinicogenetic...

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Detalhes bibliográficos
Publicado no:Front Neurol
Main Authors: Peng, Yun, Ye, Wei, Chen, Zhao, Peng, Huirong, Wang, Puzhi, Hou, Xuan, Wang, Chunrong, Zhou, Xin, Hou, Xiaocan, Li, Tianjiao, Qiu, Rong, Hu, Zhengmao, Tang, Beisha, Jiang, Hong
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2018
Assuntos:
Neurology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6306413/
https://ncbi.nlm.nih.gov/pubmed/30619065
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2018.01111
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