Characterization of a variant of gap junction protein α8 identified in a family with hereditary cataract

PURPOSE: Congenital cataracts occur in isolation in about 70% of cases or are associated with other abnormalities such as anterior segment dysgenesis and microphthalmia. We identified a three-generation family in the University of California San Francisco glaucoma clinic comprising three individuals...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Kuo, Debbie S., Sokol, Jared T., Minogue, Peter J., Berthoud, Viviana M., Slavotinek, Anne M., Beyer, Eric C., Gould, Douglas B.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2017
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5565107/
https://ncbi.nlm.nih.gov/pubmed/28827829
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0183438
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