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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6306413/
https://www.ncbi.nlm.nih.gov/pubmed/30619065
http://dx.doi.org/10.3389/fneur.2018.01111

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6306413/
https://www.ncbi.nlm.nih.gov/pubmed/30619065
http://dx.doi.org/10.3389/fneur.2018.01111

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