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Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.
Rendtorff, Nanna D; Lodahl, Marianne; Boulahbel, Houda; Johansen, Ida R; Pandya, Arti; Welch, Katherine O; Norris, Virginia W; Arnos, Kathleen S; Bitner-Glindzicz, Maria; Emery, Sarah B; Mets, Marilyn B; Fagerheim, Toril; Eriksson, Kristina; Hansen, Lars; Bruhn, Helene; Möller, Claes; Lindholm, Sture; Ensgaard, Stefan; Lesperance, Marci M; Tranebjaerg, Lisbeth.
Affiliation
  • Rendtorff ND; Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, The Panum Institute, University of Copenhagen, Denmark.
Am J Med Genet A ; 155A(6): 1298-313, 2011 Jun.
Article in En | MEDLINE | ID: mdl-21538838
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Full text: 1 Database: MEDLINE Main subject: Wolfram Syndrome / Optic Atrophy / Genetic Predisposition to Disease / Mutation, Missense / GTP Phosphohydrolases / Hearing Loss / Membrane Proteins Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Male Country/Region as subject: America do norte / Europa Language: En Year: 2011 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Wolfram Syndrome / Optic Atrophy / Genetic Predisposition to Disease / Mutation, Missense / GTP Phosphohydrolases / Hearing Loss / Membrane Proteins Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Male Country/Region as subject: America do norte / Europa Language: En Year: 2011 Type: Article