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Identification of a Novel GJA8 (Cx50) Point Mutation Causes Human Dominant Congenital Cataracts

18 Feb 2014

Abstract excerpt

Hereditary cataracts are clinically and genetically heterogeneous lens diseases that cause a significant proportion of visual impairment and blindness in children. Human cataracts have been linked with mutations in two genes, GJA3 and GJA8, respectively. To identify the causative mutation in a family with hereditary cataracts, family members were screened for mutations by PCR for both genes. Sequencing the coding...

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PMID: 24535056
DOI: 10.1038/srep04121

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Identification of a Novel GJA8 (Cx50) Point Mutation Causes Human Dominant Congenital CataractsPMID 24535056Read ↗

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