Whole exome sequencing reveals novel EYS mutations in Chinese patients with autosomal recessive retinitis pigmentosa

Whole exome sequencing reveals novel EYS mutations in Chinese patients with autosomal recessive retinitis pigmentosa

Purpose: Retinitis pigmentosa (RP) belongs to a group of inherited retinal diseases with high genetic heterogeneity. This study aimed at identifying the disease-causing variants in patients with autosomal recessive RP. Methods: Three RP families with autosomal recessive inheritance and 139 sporad...

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Bibliographic Details
Main Authors: Xiaoqiang Xiao, Yingjie Cao, Shaowan Chen, Min Chen, Xiaoting Mai, Yuqian Zheng, Tsz Kin Ng, Haoyu Chen
Format: Article
Language:English
Published: Molecular Vision 2019-01-01
Series:Molecular Vision
Subjects:
Retinitis pigmentosa
Online Access:http://www.molvis.org/molvis/v25/35/

Internet

http://www.molvis.org/molvis/v25/35/

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