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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...

Whakaahuatanga katoa

I tiakina i:
Ngā kaituhi matua: 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
Hōputu: Artigo
Reo:Inglês
I whakaputaina: Frontiers Media S.A. 2018-12-01
Rangatū:Frontiers in Neurology
Ngā marau:
cerebellar ataxia
SYNE1
mutation
high-throughput nucleotide sequencing
Genotype–Phenotype
Urunga tuihono:https://www.frontiersin.org/article/10.3389/fneur.2018.01111/full
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