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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Bibliographic Details
Main Authors: Juan Bu, Sijie He, Lejin Wang, Jiankang Li, Jing Liu, Xiuqing Zhang
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2016-01-01
Series:Indian Journal of Ophthalmology
Subjects:
Online Access:http://www.ijo.in/article.asp?issn=0301-4738;year=2016;volume=64;issue=5;spage=364;epage=368;aulast=Bu