Yafang Hu Haishan Jiang Qun Wang Zuoshan Xie Suyue Pan
10.1371/journal.pone.0056362
PLoS One
2013;8(2):e56362.
CC BY
https://pubmed.ncbi.nlm.nih.gov/23441182/
Asian People / genetics Ataxia / diagnosis Ataxia / genetics Calcium Channels / genetics Codon, Nonsense Nystagmus, Pathologic / diagnosis Nystagmus, Pathologic / genetics
Asian People / genetics Ataxia / diagnosis Ataxia / genetics Calcium Channels / genetics Codon, Nonsense Nystagmus, Pathologic / diagnosis Nystagmus, Pathologic / genetics Case Reports Research Support, Non-U.S. Gov't Adult Aged Base Sequence China Female Humans Male Middle Aged Pedigree Young Adult CACNA1A protein, human Calcium Channels Codon, Nonsense Episodic Ataxia, Type 2
PMC3575407
23441182
Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2
2013