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Article

[A novel GJA8 mutation in a Chinese family with autosomal dominant congenital cataract].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2008

Lin Ying, Liu Ni-ni, Lei Chun-tao, Fan Ying-chuan, Liu Xiao-qi, Yang Yang, Wang Jun-fang, Liu Bing, Yang Zheng-lin

Abstract excerpt

OBJECTIVE: To identify the mutations in the gap junction protein alpha3/alpha8 gene (GJA3 or GJA8) in the Chinese family with autosomal dominant congenital cataract (ADCC). METHODS: All subjects(5 family members and 100 unrelated control individuals)were undergone comprehensive ophthalmic examina...

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Identifiers

PMID: 18247306

Genes

GJA8
GJA3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18247306-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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