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Article

Mutation profiles of congenital cataract genes in 21 northern Chinese families.

Molecular vision - 1 Jan 2018

Zhang Xiao Hui, Da Wang Jin, Jia Hong Yan, Zhang Jing Shang, Li Yang, Xiong Ying, Li Jing, Li Xiao Xia, Huang Yao, Zhu Gu Yu, Rong Shi Song, Wormstone Michael, Wan Xiu Hua

Abstract excerpt

Purpose: To identify disease-causing gene mutations in 21 northern Chinese families with congenital cataracts. Methods: Medical record collection and ophthalmologic examinations were conducted for 21 families with congenital cataracts. A volume of 5 ml of peripheral blood was drawn from each participant for genomic DNA isolation. Thirty-four known candidate genes for congenital cataracts were analyzed in the...

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Identifiers

PMID: 30078984
PMCID: PMC6054834

Genes

GJA8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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