Genetic and clinical analysis in Chinese patients with retinitis pigmentosa caused by EYS mutations

Genetic and clinical analysis in Chinese patients with retinitis pigmentosa caused by EYS mutations

Abstract Background Panel‐based targeted exome sequencing was applied to identify the pathogenic variants and genetic characteristics of retinitis pigmentosa (RP) in two Chinese families, and to gain a deeper understanding of the relationship between clinical manifestations and genotypes. Methods A...

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Bibliographic Details
Main Authors: Yan Sun, Jian‐kang Li, Wei He, Zhuo‐shi Wang, Jin‐yue Bai, Ling Xu, Bo Xing, Jian‐guo Zhang, Lusheng Wang, Wei Li, Fang Chen
Format: Article
Language:English
Published: Wiley 2020-03-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
blue blindness
mutation spectrum
panel‐based targeted exome sequencing
retinitis pigmentosa
Online Access:https://doi.org/10.1002/mgg3.1117

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