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Article

Identification of a GJA3 mutation in a Chinese family with congenital nuclear cataract using exome sequencing.

Indian journal of biochemistry & biophysics - 1 Aug 2013

Guo Yi, Yuan Lamei, Yi Junhui, Xiao Jingjing, Xu Hongbo, Lv Hongwei, Xiong Wei, Zheng Wen, Guan Liping, Zhang Jianguo, Xiang Hong, Qi Yong, Deng Hao

Abstract excerpt

Congenital cataract, a clinically and genetically heterogeneous lens disorder is defined as any opacity of the lens presented from birth and is responsible for approximately 10% of worldwide childhood poor vision or blindness. To identify the genetic defect responsible for congenital nuclear cataract in a four-generation Chinese Han family, exome and direct Sanger sequencings were conducted and a missense variant...

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Identifiers

PMID: 24772942

Genes

GJA3

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

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Identification of a GJA3 mutation in a Chinese family with congenital nuclear cataract using exome sequencing.PMID 24772942Read ↗

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A novel mutation in the GJA3 (connexin46) gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family.Semantic proximity Read ↗

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