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Dissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapy
Ana B. Garcia-Delgado , Lourdes Valdes-Sanchez , Maria Jose Morillo-Sanchez , Beatriz Ponte-Zuñiga , Francisco J. Diaz-Corrales , Berta...
May 17, 2021
EYS is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwi
Considering that EYS is the major causative gene of RP in Japan, researchers conducted stepwise genetic screening of 220 Japanese patients.
Nov 27, 2020
Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa
Targeted next-generation sequencing (NGS) has been demonstrated to be an effective strategy for the detection of mutations in RP.
Apr 22, 2016
A Missense Mutation in DHDDS, Encoding Dehydrodolichyl Diphosphate Synthase, Is Associated with Autosomal-Recessive Retinitis Pigmentosa in Ashkenazi Jews
Using homozygosity mapping in Ashkenazi Jewish (AJ) patients with arRP, we identified a shared 1.7 Mb homozygous region on chromosome 1p36.1
Feb 11, 2011
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