A NOVEL MISSENSE MUTATION IN THE RDS/PERIPHERIN GENE ASSOCIATED WITH RETINAL PATTERN DYSTROPHY
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Ophthalmology,General Medicine
Reference15 articles.
1. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.;Wells;Nat Genet,1993
2. A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa.;Farrar;Nature,1991
3. Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene.;Apfelstedt-Sylla;Br J Ophthalmol,1995
4. Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RPS gene.;Felbor;Hum Mutat,1997
5. Deletion in the peripherin/RDS gene in two unrelated Sardinian families with autosomal dominant butterfly-shaped macular dystrophy.;Fossarello;Arch Ophthalmol,1996
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients;Investigative Ophthalmology & Visual Science;2024-05-14
2. PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease;Human Mutation;2021-09-20
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