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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Principais autores:	Yun Peng, Wei Ye, Zhao Chen, Huirong Peng, Puzhi Wang, Xuan Hou, Chunrong Wang, Xin Zhou, Xiaocan Hou, Tianjiao Li, Rong Qiu, Zhengmao Hu, Beisha Tang, Hong Jiang
Format:	Artigo
Jezik:	Inglês
Izdano:	Frontiers Media S.A. 2018-12-01
Serija:	Frontiers in Neurology
Teme:	cerebellar ataxia SYNE1 mutation high-throughput nucleotide sequencing Genotype–Phenotype
Online dostop:	https://www.frontiersin.org/article/10.3389/fneur.2018.01111/full
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