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...
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 |
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Format: | Article |
Language: | English |
Published: |
Wiley
2020-03-01
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Series: | Molecular Genetics & Genomic Medicine |
Subjects: | |
Online Access: | https://doi.org/10.1002/mgg3.1117 |
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