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

Schnieders, M J; Goar, W; Griess, M; Roos, B R; Scheetz, T E; Stone, E M; Fingert, J H.

Afiliación

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 en En | MEDLINE | ID: mdl-29350691

Asunto(s)

GTP Fosfohidrolasas/genética; Mutación; Atrofia Óptica Autosómica Dominante/genética; Predisposición Genética a la Enfermedad; Humanos; Linaje

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Atrofia Óptica Autosómica Dominante / GTP Fosfohidrolasas / Mutación Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Revista: Eye (Lond) Asunto de la revista: OFTALMOLOGIA Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos

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