MACULAR DYSTROPHY ASSOCIATED WITH THE ARG172TRP SUBSTITUTION IN PERIPHERIN/RDS-Reference-Cited by-同舟云学术

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MACULAR DYSTROPHY ASSOCIATED WITH THE ARG172TRP SUBSTITUTION IN PERIPHERIN/RDS

Published:2009-05 Issue:5 Volume:29 Page:682-688
ISSN:0275-004X
Container-title:Retina
language:en
Short-container-title:

Author:

ANAND SEEMA,SHERIDAN EAMONN,CASSIDY FRANCES,INGLEHEARN CHRIS,WILLIAMS GRANGE,SPRINGELL KELLY,ALLGAR VICTORIA,KELLY THU-LAN,McKIBBIN MARTIN

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Ophthalmology,General Medicine

Reference24 articles.

1. Butterfly-shaped dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene.;Nichols;Nat Genet,1993

2. Localization of peripherin/RDS in the disk membranes of cone and rod photoreceptor relationship to disc membrane morphogenesis and retinal degeneration.;Arokawa;Cell Biol,1992

3. Founder effect, seen in the British population, of the 172 Peripherin/RDS mutation—and further refinement of genetic positioning of the Peripherin/RDS gene.;Payne;Am J Hum Genet,1998

4. Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.;Kajiwara;Nature,1991

5. A three base pair deletion in the peripherin RDS gene in one form of retinitis pigmentosa.;Farrar;Nature,1991

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1. Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes;Progress in Retinal and Eye Research;2024-05

2. New Insights on the Regulatory Gene Network Disturbed in Central Areolar Choroidal Dystrophy—Beyond Classical Gene Candidates;Frontiers in Genetics;2022-05-17

3. Progressive and Stationary Disorders of Cone Function: Cone and Cone-Rod Dystrophies and Cone Dysfunction Syndromes;Albert and Jakobiec's Principles and Practice of Ophthalmology;2022

4. PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease;Human Mutation;2021-09-20

5. Progressive and Stationary Disorders of Cone Function: Cone and Cone-Rod Dystrophies and Cone Dysfunction Syndromes;Albert and Jakobiec's Principles and Practice of Ophthalmology;2021

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