article_metadata: Hiroyuki Morino Ryosuke Miyamoto Shizuo Ohnishi Hirofumi Maruyama Hideshi Kawakami
article_metadata: 10.1186/1471-2377-14-5
article_metadata: BMC Neurol
article_metadata: 2014 Jan 7;14:5.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/24397319/
article_metadata: Asian People / genetics Exome / genetics Membrane Proteins / genetics Mitochondrial Proteins / genetics Mutation / genetics Spinocerebellar Ataxias / diagnosis Spinocerebellar Ataxias / genetics
article_metadata: Asian People / genetics Exome / genetics Membrane Proteins / genetics Mitochondrial Proteins / genetics Mutation / genetics Spinocerebellar Ataxias / diagnosis Spinocerebellar Ataxias / genetics Case Reports Research Support, Non-U.S. Gov't Adult Female Humans Pedigree Membrane Proteins Mitochondrial Proteins TTC19 protein, human
article_metadata: PMC3890717
article_metadata: 24397319
article_metadata: Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient
article_metadata: 2014