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Article

A novel mutation in the connexin 50 gene (GJA8) associated with autosomal dominant congenital nuclear cataract in a Chinese family.

Current eye research - 1 Jul 2010

Gao Xiaobo, Cheng Jie, Lu Cailing, Li Xiaoqiao, Li Feifeng, Liu Chunmei, Zhang Meng, Zhu Siquan, Ma Xu

Abstract excerpt

PURPOSE: To identify the genetic defect in a four-generation Chinese family with autosomal dominant congenital nuclear cataract. METHODS: Family history data were recorded. Clinical and ophthalmologic examinations were performed on family members. All the members were genotyped with microsatellite markers at loci associated with cataracts. Linkage analysis was performed after genotyping. Candidate genes were...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20597646
DOI: 10.3109/02713681003725831

Genes

GJA8

Provenance

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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