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RPE65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China - Li - 2020 - Acta Ophthalmologica - Wiley Online Library
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Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population | Orphanet Journal of Rare Diseases | Full Text
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Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis | PNAS
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Genes | Free Full-Text | Properties and Therapeutic Implications of an Enigmatic D477G RPE65 Variant Associated with Autosomal Dominant Retinitis Pigmentosa
![Schematic of the gene structure of RPE65 showing the positions of the... | Download Scientific Diagram Schematic of the gene structure of RPE65 showing the positions of the... | Download Scientific Diagram](https://www.researchgate.net/publication/12231541/figure/fig2/AS:394549819133960@1471079415579/Schematic-of-the-gene-structure-of-RPE65-showing-the-positions-of-the-14-exons-and.png)
Schematic of the gene structure of RPE65 showing the positions of the... | Download Scientific Diagram
![AZ RETINA Project on Twitter: "This happens by restoring the missing enzyme in RPE. The treatment is injected past the neural retina, so it interacts with the RPE. Recently, there has been AZ RETINA Project on Twitter: "This happens by restoring the missing enzyme in RPE. The treatment is injected past the neural retina, so it interacts with the RPE. Recently, there has been](https://pbs.twimg.com/media/FD3XrIIUcAcnsTl.jpg:large)
AZ RETINA Project on Twitter: "This happens by restoring the missing enzyme in RPE. The treatment is injected past the neural retina, so it interacts with the RPE. Recently, there has been
![RPE65-related retinal dystrophy: mutational and phenotypic spectrum in 45 affected patients | medRxiv RPE65-related retinal dystrophy: mutational and phenotypic spectrum in 45 affected patients | medRxiv](https://www.medrxiv.org/content/medrxiv/early/2021/01/29/2021.01.19.21249492/F1.large.jpg)
RPE65-related retinal dystrophy: mutational and phenotypic spectrum in 45 affected patients | medRxiv
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CRISPR-Cas9–mediated therapeutic editing of Rpe65 ameliorates the disease phenotypes in a mouse model of Leber congenital amaurosis | Science Advances
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IJMS | Free Full-Text | An Update on Gene Therapy for Inherited Retinal Dystrophy: Experience in Leber Congenital Amaurosis Clinical Trials
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