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

Molecular genetics & genomic medicine - 1 Mar 2020

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

Abstract excerpt

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 of 17 subjects, comprising two probands (total patients: four subjects) and their family member, were recruited in...

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PMID: 31944634
DOI: 10.1002/mgg3.1117
PMCID: PMC7057104

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