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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Publicat a:PLoS One
Autors principals: Kuo, Debbie S., Sokol, Jared T., Minogue, Peter J., Berthoud, Viviana M., Slavotinek, Anne M., Beyer, Eric C., Gould, Douglas B.
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2017
Matèries:
Research Article
Accés en línia: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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