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

Internet

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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