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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Bibliografske podrobnosti
izdano v: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
Format: Artigo
Jezik:Inglês
Izdano: Frontiers Media S.A. 2018
Teme:
Neurology
Online dostop: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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