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Article

Studies of congenital cataract-related TSR1 mutation and its expression in the lens.

Yi chuan = Hereditas - 20 Feb 2020

Yu Ya-Jie, Qiu Feng, Zhang Xin-An

Abstract excerpt

Congenital cataract (CC) is a rare disease with dysplasia of the lens, mainly characterized by partial or complete opacity of the lens. The molecular basis of the disease is complex, mutations in over 266 genes associated with congenital cataracts had been reported. In this study, a novel congenital cataract candidate gene TSR1 was identified by whole genome sequencing and Sanger sequencing in a Chinese...

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PMID: 32102773
DOI: 10.16288/j.yczz.19-166

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