Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene

PURPOSE: To characterize the clinical, psychophysical, and electrophysiological phenotypes in a five-generation Swiss family with dominantly inherited retinitis pigmentosa caused by a T494M mutation in the Precursor mRNA-Processing factor 3 (PRPF3) gene, and to relate the phenotype to the underlying...

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Detalles Bibliográficos
Autores principales: Vaclavik, Veronika, Gaillard, Marie-Claire, Tiab, L., Schorderet, Daniel F., Munier, Francis L.
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2842095/
https://www.ncbi.nlm.nih.gov/pubmed/20309403

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2842095/
https://www.ncbi.nlm.nih.gov/pubmed/20309403

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