Associated Papers
Short-Term Outcomes of Pediatric Patients With Mild Autosomal Recessive RPE65-Associated Retinal Dystrophy Treated With Voretigene Neparvovec.
Merle DA et al.
Translational Vision Science & Technology, 2025
Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants.
Wu J et al.
Peerj, 2023
37547722 (PubMed )
Supplement: peerj-11-15702-s004.xlsx › Table_S2
Clinical Features and Natural History in a Cohort of Chinese Patients with RPE65-Associated Inherited Retinal Dystrophy.
Shi J et al.
Journal of Clinical Medicine, 2021
Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population.
Gao FJ et al.
Orphanet Journal of Rare Diseases, 2021
The findings of optical coherence tomography of retinal degeneration in relation to the morphological and electroretinographic features in RPE65-/- mice.
Tanabu R et al.
Plos One, 2019
Enhancing Understanding of the Visual Cycle by Applying CRISPR/Cas9 Gene Editing in Zebrafish.
Ward R et al.
Frontiers in Cell and Developmental Biology, 2018
A novel mutation in the RPE65 gene causing Leber congenital amaurosis and its transcriptional expression in vitro.
Mo G et al.
Plos One, 2014
Novel RPE65 mutations associated with Leber congenital amaurosis in Chinese patients.
Xu F et al.
Molecular Vision, 2012
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