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A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts
PURPOSE: This study was performed to investigate the genetic determinants of autosomal recessive congenital cataracts in large consanguineous families. METHODS: Affected individuals underwent a detailed ophthalmological examination and slit-lamp photographs of the cataractous lenses were obtained. A...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4915718/ https://www.ncbi.nlm.nih.gov/pubmed/27326458 http://dx.doi.org/10.1371/journal.pone.0157005 |