Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa
Author:
Publisher
Elsevier BV
Subject
Genetics
Reference10 articles.
1. Zur Vererbung der Hemeralopia hereditaria und tapeto-retinalen Degeneration;Ammann;Ophthalmologica (Basel),1946
2. Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa;Dryja;N. Engl. J. Med,1990
3. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa;Dryja;Nature,1990
4. Autosomal dominant retinitis pigmentosa: Absence of the rhodopsin proline → histidine substitution (codon 23) in pedigrees from Europe;Farrar;Am. J. Hum. Genet,1990
5. Autosomal dominant sectoral retinitis pigmentosa: Two families with transversion mutation in codon 23 of rhodopsin;Heckenlively;Arch. Ophthalmol,1991
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2. Effects of Pathogenic Variations in the Human Rhodopsin Gene (hRHO) on the Predicted Accessibility for a Lead Candidate Ribozyme;INVEST OPHTH VIS SCI;2017
3. Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual;Investigative Opthalmology & Visual Science;2016-03-08
4. Prevalence of Mutations in eyeGENE Probands With a Diagnosis of Autosomal Dominant Retinitis Pigmentosa;Investigative Opthalmology & Visual Science;2013-09-19
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