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Exome sequencing identification of susceptibility genes in Chinese patients with keratoconus.

Ophthalmic genetics - 1 Dec 2020

Xu Liyan, Yang Kaili, Fan Qi, Gu Yuwei, Zhang Bo, Pang Chenjiu, Ren Shengwei

Abstract excerpt

PURPOSE: Keratoconus (KC) is a corneal ectasia disease with complex genetic heterogeneity. The present study aimed to identify susceptibility genes in Chinese patients with KC. METHODS: Exome sequencing (ES) was performed in 28 Chinese KC patients to search for susceptibility genes of the disease. The candidate variants were filtered out by multi-step bioinformatics analysis and validated by Sanger sequencing....

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PMID: 32744102
DOI: 10.1080/13816810.2020.1799415

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