Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis
Author:
Publisher
Proceedings of the National Academy of Sciences
Subject
Multidisciplinary
Reference11 articles.
1. Gene-based approach to human gene-phenotype correlations
2. The Gene for the Retinal Pigment Epithelium-Specific Protein RPE65 Is Localized to Human 1p31 and Mouse 3
3. A developmentally regulated microsomal protein specific for the pigment epithelium of the vertebrate retina
4. Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-transcriptionally regulated in vitro
5. Molecular characterization of the human gene encoding an abundant 61 kDa protein specific to the retinal pigment epithelium
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3. RPE65 mutations in Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitis pigmentosa from a tertiary eye care center in India;Ophthalmic Genetics;2024-02-07
4. Single Center Experience with Voretigene Neparvovec Gene Augmentation Therapy in RPE65 Mutation–Associated Inherited Retinal Degeneration in a Clinical Setting;Ophthalmology;2024-02
5. Die RPE-Zelle und das Immunsystem;Das Retinale Pigmentepithel – Physiologie und Pathologie;2024
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