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Article

A novel mutation in GJA3 associated with congenital Coppock-like cataract in a large Chinese family.

Molecular vision - 1 Jan 2012

Zhang Lu, Qu Xin, Su Sheng, Guan Linan, Liu Ping

Abstract excerpt

PURPOSE: To identify the potential pathogenic mutation over five generations of a Chinese family with congenital Coppock-like cataracts (CCL). METHODS: We investigated five generations of a Chinese family affected with CCL. The family resides in a relatively isolated region of northern China. Peripheral blood samples were collected from all of the family members, and genomic DNA was then extracted from the blood...

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Identifiers

PMID: 22876138
PMCID: PMC3413429

Genes

GJA3

Variants

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