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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...

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Detalles Bibliográficos
Autores principales: Jiao, Xiaodong, Kabir, Firoz, Irum, Bushra, Khan, Arif O., Wang, Qiwei, Li, David, Khan, Asma A., Husnain, Tayyab, Akram, Javed, Riazuddin, Sheikh, Hejtmancik, J. Fielding, Riazuddin, S. Amer
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
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