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Article

A novel connexin 50 gene (gap junction protein, alpha 8) mutation associated with congenital nuclear and zonular pulverulent cataract.

Molecular vision - 1 Jan 2013

Li Jinyu, Wang Qiwei, Fu Qiuyue, Zhu Yanan, Zhai Yi, Yu Yinhui, Zhang Kai, Yao Ke

Abstract excerpt

PURPOSE: To characterize the disease-causing mutations in four generations of a Chinese family affected with bilateral congenital nuclear and zonular pulverulent cataract. METHODS: Detailed family history and clinical data were recorded. The phenotype was documented using slit-lamp photography. Candidate genes were amplified using PCR and screened for mutations using bidirectional sequencing. RESULTS: Affected...

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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: 23592913
PMCID: PMC3626375

Genes

GJA8

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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