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RPE 65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China

5 Jul 2019

Abstract excerpt

PURPOSE: Retinoid isomerohydrolase RPE65 has received a tremendous amount of attention due to successful clinical gene therapy for Leber congenital amaurosis (LCA) cases caused by RPE65 mutations. This study aimed to evaluate the frequency of RPE65 mutations and the associated phenotypes based on exome sequencing. METHODS: RPE65 variants were collected from exome sequencing data obtained from 2133 probands with...

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PMID: 31273949
DOI: 10.1111/aos.14181

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