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A novel mutation (LEU396ARG) in OPA1 is associated with a severe phenotype in a large dominant optic atrophy pedigree.
Schnieders, M J; Goar, W; Griess, M; Roos, B R; Scheetz, T E; Stone, E M; Fingert, J H.
Affiliation
  • Schnieders MJ; Department of Biochemistry, Carver College of Medicine, University of Iowa, Iowa, IA, USA.
  • Goar W; The Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa, IA, USA.
  • Griess M; The Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa, IA, USA.
  • Roos BR; Department of Ophthalmology and Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa, IA, USA.
  • Scheetz TE; Department of Ophthalmology and Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa, IA, USA.
  • Stone EM; The Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa, IA, USA.
  • Fingert JH; Department of Ophthalmology and Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa, IA, USA.
Eye (Lond) ; 32(4): 843-845, 2018 04.
Article in En | MEDLINE | ID: mdl-29350691
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Optic Atrophy, Autosomal Dominant / GTP Phosphohydrolases / Mutation Type of study: Risk_factors_studies Limits: Humans Language: En Journal: Eye (Lond) Journal subject: OFTALMOLOGIA Year: 2018 Document type: Article Affiliation country: United States
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Optic Atrophy, Autosomal Dominant / GTP Phosphohydrolases / Mutation Type of study: Risk_factors_studies Limits: Humans Language: En Journal: Eye (Lond) Journal subject: OFTALMOLOGIA Year: 2018 Document type: Article Affiliation country: United States