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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2017
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| Materias: | |
| 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 |