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Article

Mutation analysis in Chinese families with autosomal dominant hereditary cataracts.

Current eye research - 1 Jan 2015

Yang Zhenfei, Li Qian, Ma Xu, Zhu Si Quan

Abstract excerpt

PURPOSE: To identify the molecular basis and clinical phenotype in three Chinese families with hereditary cataracts. METHODS: Detailed family history and clinical data were recorded. The phenotypes were documented using slit-lamp photography. Candidate genes sequencing was performed to screen out the disease causing mutation. Bioinformatics analysis was performed to predict the function of mutant genes. RESULTS:...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25549162
DOI: 10.3109/02713683.2014.997885

Genes

GJA3
GJA8

Variants

Provenance

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