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A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States
PURPOSE: To identify the causes of autosomal dominant retinitis pigmentosa (adRP) in a cohort of families without mutations in known adRP genes and consequently to characterize a novel dominant-acting missense mutation in SAG. METHODS: Patients underwent ophthalmologic testing and were screened for...
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Udgivet i: | Invest Ophthalmol Vis Sci |
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Main Authors: | , , , , , , , , , , , , , , , , , , |
Format: | Artigo |
Sprog: | Inglês |
Udgivet: |
The Association for Research in Vision and Ophthalmology
2017
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Fag: | |
Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5455168/ https://ncbi.nlm.nih.gov/pubmed/28549094 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.16-21341 |
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