Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual

PURPOSE: Retinitis pigmentosa (RP) is a group of clinically and genetically heterogeneous hereditary retinal diseases that result in blindness due to photoreceptor degeneration. Mutations in the rhodopsin (RHO) gene are the most common cause of autosomal dominant RP (adRP) and are responsible for 16...

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Detalles Bibliográficos
Autores principales: Beryozkin, Avigail, Levy, Gal, Blumenfeld, Anat, Meyer, Segev, Namburi, Prasanthi, Morad, Yair, Gradstein, Libe, Swaroop, Anand, Banin, Eyal, Sharon, Dror
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2016
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4788094/
https://www.ncbi.nlm.nih.gov/pubmed/26962691
http://dx.doi.org/10.1167/iovs.15-18702

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4788094/
https://www.ncbi.nlm.nih.gov/pubmed/26962691
http://dx.doi.org/10.1167/iovs.15-18702

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