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Article

A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family.

Molecular vision - 16 Dec 2009

Wang Kaijie, Wang Binbin, Wang Jing, Zhou Shiyi, Yun Bo, Suo Peisu, Cheng Jie, Ma Xu, Zhu Siquan

Abstract excerpt

PURPOSE: To identify the genetic defect associated with autosomal dominant congenital nuclear cataract in a Chinese family. METHODS: Family history and clinical data were recorded. The genomic DNA was extracted from peripheral blood leukocytes. All the members were genotyped with microsatellite markers at loci considered to be associated with cataracts. Two-point logarithm of odds (LOD) scores were calculated by...

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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: 20019893
PMCID: PMC2794658

Genes

GJA8

Variants

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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