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Variability in clinical phenotypes of PRPF8-linked autosomal dominant retinitis pigmentosa correlates with differential PRPF8/SNRNP200 interactions.
Escher, Pascal; Passarin, Olga; Munier, Francis L; Tran, Viet H; Vaclavik, Veronika.
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  • Escher P; a Department of Ophthalmology , University of Lausanne, Jules-Gonin Eye Hospital , Lausanne , Switzerland.
  • Passarin O; b Department of Ophthalmology , Inselspital, Bern University Hospital , Bern , Switzerland.
  • Munier FL; c Department of BioMedical Research , University of Bern , Bern , Switzerland.
  • Tran VH; a Department of Ophthalmology , University of Lausanne, Jules-Gonin Eye Hospital , Lausanne , Switzerland.
  • Vaclavik V; a Department of Ophthalmology , University of Lausanne, Jules-Gonin Eye Hospital , Lausanne , Switzerland.
Ophthalmic Genet ; 39(1): 80-86, 2018.
Article en En | MEDLINE | ID: mdl-29087248
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Retinitis Pigmentosa / Proteínas de Unión al ARN / Ribonucleoproteínas Nucleares Pequeñas / Mutación Missense Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Ophthalmic Genet Asunto de la revista: GENETICA MEDICA / OFTALMOLOGIA Año: 2018 Tipo del documento: Article País de afiliación: Suiza
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Retinitis Pigmentosa / Proteínas de Unión al ARN / Ribonucleoproteínas Nucleares Pequeñas / Mutación Missense Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Ophthalmic Genet Asunto de la revista: GENETICA MEDICA / OFTALMOLOGIA Año: 2018 Tipo del documento: Article País de afiliación: Suiza