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A novel splice donor site mutation in EPHA2 caused congenital cataract in a Chinese family

BACKGROUND: Congenital cataract is a rare disorder characterized by crystallin denaturation, which becomes a major cause of childhood blindness. Although more than fifty pathogenic genes for congenital cataract have been reported, the genetic causes of many cataract patients remain unknown. In this...

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Detalles Bibliográficos
Autores principales:	Bu, Juan, He, Sijie, Wang, Lejin, Li, Jiankang, Liu, Jing, Zhang, Xiuqing
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Medknow Publications & Media Pvt Ltd 2016
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4966373/ https://www.ncbi.nlm.nih.gov/pubmed/27380975 http://dx.doi.org/10.4103/0301-4738.185597

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