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Identification of Novel EYS Mutations by Targeted Sequencing Analysis.

Genetic testing and molecular biomarkers - 1 Nov 2020

Tian Wanli, Li Xiao, Li Ya, Wang Luyao, Yang Yeming, Sun Kuanxiang, Liu Wenjing, Zhou Bo, Lei Bo, Zhu Xianjun

Abstract excerpt

Purpose: Retinitis pigmentosa (RP) is an inherited and progressive degenerative retinal disease that often results in severe vision loss and blindness. However, mutations in known RP disease genes account for only 60% of RP cases, indicating that there are additional pathogenic mutations are yet to be identified. We aimed to identify the causative mutations in the eyes shut homolog (EYS) gene in a cohort of...

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Identifiers

PMID: 33058741
DOI: 10.1089/gtmb.2020.0186

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