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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Invest Ophthalmol Vis Sci
Prif Awduron: Beryozkin, Avigail, Levy, Gal, Blumenfeld, Anat, Meyer, Segev, Namburi, Prasanthi, Morad, Yair, Gradstein, Libe, Swaroop, Anand, Banin, Eyal, Sharon, Dror
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: The Association for Research in Vision and Ophthalmology 2016
Pynciau:
Genetics
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4788094/
https://ncbi.nlm.nih.gov/pubmed/26962691
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.15-18702
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