Hiroyuki Morino Ryosuke Miyamoto Shizuo Ohnishi Hirofumi Maruyama Hideshi Kawakami
10.1186/1471-2377-14-5
BMC Neurol
2014 Jan 7;14:5.
CC BY
https://pubmed.ncbi.nlm.nih.gov/24397319/
Asian People / genetics Exome / genetics Membrane Proteins / genetics Mitochondrial Proteins / genetics Mutation / genetics Spinocerebellar Ataxias / diagnosis Spinocerebellar Ataxias / genetics
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
PMC3890717
24397319
Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient
2014