article_metadata: Yafang Hu Haishan Jiang Qun Wang Zuoshan Xie Suyue Pan
article_metadata: 10.1371/journal.pone.0056362
article_metadata: PLoS One
article_metadata: 2013;8(2):e56362.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/23441182/
article_metadata: Asian People / genetics Ataxia / diagnosis Ataxia / genetics Calcium Channels / genetics Codon, Nonsense Nystagmus, Pathologic / diagnosis Nystagmus, Pathologic / genetics
article_metadata: 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
article_metadata: PMC3575407
article_metadata: 23441182
article_metadata: Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2
article_metadata: 2013