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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Detalles Bibliográficos
Autores principales: Kuo, Debbie S., Sokol, Jared T., Minogue, Peter J., Berthoud, Viviana M., Slavotinek, Anne M., Beyer, Eric C., Gould, Douglas B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5565107/
https://www.ncbi.nlm.nih.gov/pubmed/28827829
http://dx.doi.org/10.1371/journal.pone.0183438

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5565107/
https://www.ncbi.nlm.nih.gov/pubmed/28827829
http://dx.doi.org/10.1371/journal.pone.0183438

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