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

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 total o...

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Vydáno v:Mol Genet Genomic Med
Hlavní autoři: Sun, Yan, Li, Jian‐kang, He, Wei, Wang, Zhuo‐shi, Bai, Jin‐yue, Xu, Ling, Xing, Bo, Zhang, Jian‐guo, Wang, Lusheng, Li, Wei, Chen, Fang
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2020
Témata:
Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7057104/
https://ncbi.nlm.nih.gov/pubmed/31944634
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1117
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