A Novel Rhodopsin Point Mutation, Proline-170-histidine, Associated with Sectoral Retinitis Pigmentosa
Author:
Publisher
Informa UK Limited
Subject
Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health
Link
http://www.tandfonline.com/doi/pdf/10.3109/13816810.2014.924014
Reference22 articles.
1. Current mutation discovery approaches in Retinitis Pigmentosa
2. Abnormal dark adaptation kinetics in autosomal dominant sector retinitis pigmentosa due to rod opsin mutation.
3. Retinitis Pigmentosa: Genes and Disease Mechanisms
4. Rhodopsin p.N78I dominant mutation causing sectorial retinitis pigmentosa in a pedigree with intrafamilial clinical heterogeneity
5. Ocular Findings in Patients With Autosomal Dominant Retinitis Pigmentosa and a Rhodopsin Gene Defect (Pro-23-His)
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1. Genotypes and clinical features of RHO-associated retinitis pigmentosa in a Japanese population;Japanese Journal of Ophthalmology;2023-12-09
2. Retinitis Pigmentosa: Current Clinical Management and Emerging Therapies;International Journal of Molecular Sciences;2023-04-19
3. Multimodal image alignment aids in the evaluation and monitoring of sector retinitis pigmentosa;Ophthalmic Genetics;2022-06-29
4. Sector Retinitis Pigmentosa: Extending the Molecular Genetics Basis and Elucidating the Natural History;American Journal of Ophthalmology;2021-01
5. Rod function deficit in retained photoreceptors of patients with class B Rhodopsin mutations;Scientific Reports;2020-07-28
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