title: Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia.
authors.affiliation: Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Maruyama
authors.forename: H
authors.initials: H
authors.lastname: Morino
authors.forename: R
authors.initials: R
authors.lastname: Miyamoto
authors.forename: N
authors.initials: N
authors.lastname: Murakami
authors.forename: T
authors.initials: T
authors.lastname: Hamano
authors.forename: H
authors.initials: H
authors.lastname: Kawakami
mesh_terms: D000075368:Anoctamins; D001284:Atrophy; D002531:Cerebellum / Q000473:pathology; D059472:Exome; D005808:Genes, Recessive; D006801:Humans; D007564:Japan; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D049268:Positron-Emission Tomography; D020754:Spinocerebellar Ataxias / Q000175:diagnosis / Q000235:genetics*
chemical_list: C000594870:ANO10 protein, human; D000075368:Anoctamins; D008565:Membrane Proteins