Molecular analysis of the rhodopsin gene in southern France: identification of the first duplication responsible for retinitis pigmentosa, c.998^999ins4-Reference-Cited by-同舟云学术

Molecular analysis of the rhodopsin gene in southern France: identification of the first duplication responsible for retinitis pigmentosa, c.998^999ins4

Published:1999-01 Issue:3 Volume:20 Page:173-182
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Bareil Corinne,Hamel Christian,Pallarès-Ruiz Nathalie,Arnaud Bernard,Demaille Jacques,Claustres Mireille

Publisher

Swets & Zeitlinger Publishers

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

http://www.tandfonline.com/doi/pdf/10.1076/opge.20.3.173.2282

Reference16 articles.

1. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

2. Rhodopsin mutations in inherited retinal dystrophies and dysfunctions

3. Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man

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1. RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape;Genes;2024-09-02

2. Retinal degeneration in humanized mice expressing mutant rhodopsin under the control of the endogenous murine promoter;Experimental Eye Research;2022-02

3. Heterozygous RHO p.R135W missense mutation in a large Han-Chinese family with retinitis pigmentosa and different refractive errors;Bioscience Reports;2019-07

4. Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families;PLOS ONE;2017-01-11

5. In silico Mapping of Protein Unfolding Mutations for Inherited Disease;Scientific Reports;2016-12