New COL6A6 Variant Causes Autosomal Dominant Retinitis Pigmentosa in a Four-Generation Family.

Vaclavik, Veronika; Tiab, Leila; Sun, Young Joo; Mahajan, Vinit B; Moulin, Alexandre; Allaman-Pillet, Nathalie; Munier, Francis L; Schorderet, Daniel F

Vaclavik, Veronika; Tiab, Leila; Sun, Young Joo; Mahajan, Vinit B; Moulin, Alexandre; Allaman-Pillet, Nathalie; Munier, Francis L; Schorderet, Daniel F.

Afiliación

Vaclavik V; Jules-Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland.
Tiab L; Department of Ophthalmology, Hospital Cantonal, Fribourg, Switzerland.
Sun YJ; Institute for Research in Ophthalmology, Sion, Switzerland.
Mahajan VB; Molecular Surgery Laboratory, Byers Eye Institute, Stanford University, Palo Alto, California, United States.
Moulin A; Molecular Surgery Laboratory, Byers Eye Institute, Stanford University, Palo Alto, California, United States.
Allaman-Pillet N; Veterans Affairs Palo Alto Health Care System, Palo Alto, California, United States.
Munier FL; Jules-Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland.
Schorderet DF; Institute for Research in Ophthalmology, Sion, Switzerland.

Invest Ophthalmol Vis Sci ; 63(3): 23, 2022 03 02.

Article en En | MEDLINE | ID: mdl-35333290

Asunto(s)

Colágeno Tipo VI; Distrofias de Conos y Bastones; Retinitis Pigmentosa; Colágeno Tipo VI/genética; Distrofias de Conos y Bastones/genética; Exones; Humanos; Mutación Missense; Linaje; Retinitis Pigmentosa/diagnóstico; Retinitis Pigmentosa/genética

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Retinitis Pigmentosa / Colágeno Tipo VI / Distrofias de Conos y Bastones Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Invest Ophthalmol Vis Sci Año: 2022 Tipo del documento: Article País de afiliación: Suiza

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