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Article

Distribution of gene mutations in sporadic congenital cataract in a Han Chinese population.

Molecular vision - 1 Jan 2016

Li Dan, Wang Siying, Ye Hongfei, Tang Yating, Qiu Xiaodi, Fan Qi, Rong Xianfang, Liu Xin, Chen Yuhong, Yang Jin, Lu Yi

Abstract excerpt

PURPOSE: This study aimed to investigate the genetic effects underlying non-familial sporadic congenital cataract (SCC). METHODS: We collected DNA samples from 74 patients with SCC and 20 patients with traumatic cataract (TC) in an age-matched group and performed genomic sequencing of 61 lens-related genes with target region capture and next-generation sequencing (NGS). The suspected SCC variants were validated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27307692
PMCID: PMC4896834

Genes

CRYBB3
EPHA2
NHS

Provenance

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