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Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia.
Maruyama, H; Morino, H; Miyamoto, R; Murakami, N; Hamano, T; Kawakami, H.
Affiliation
  • Maruyama H; Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan.
Clin Genet ; 85(3): 296-7, 2014 Mar.
Article in En | MEDLINE | ID: mdl-23551081
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spinocerebellar Ataxias / Exome / Genes, Recessive / Membrane Proteins / Mutation Type of study: Diagnostic_studies Limits: Humans / Male / Middle aged Country/Region as subject: Asia Language: En Journal: Clin Genet Year: 2014 Document type: Article Affiliation country: Japan Country of publication: Denmark
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spinocerebellar Ataxias / Exome / Genes, Recessive / Membrane Proteins / Mutation Type of study: Diagnostic_studies Limits: Humans / Male / Middle aged Country/Region as subject: Asia Language: En Journal: Clin Genet Year: 2014 Document type: Article Affiliation country: Japan Country of publication: Denmark