Authors:Du Wei, Zhang Ye, Xie Zhenggao DOI: 10.3760/cma.j.issn.2095-0160.2019.09.008 Published 2019-09-10 Cite as Chin J Exp Ophthalmol, 2019,37(9): 726-729. Abstract [View PDF] [Read Full Text] Objective To reveal the pathogenic mutations in Chinese families with idiopathic congenital nystagmus(ICN) Methods Six families with ICN were recruited from Subei […]
Tag: Nonsense mutation
Genetic analysis of a Chinese family with congenital aniridia and detection of PAX6 mutation locus
Authors: Zhang Luxi, Yang Ge, Jia Jing, Wan Wencui, Yang Xin, Jin Xuemin DOI: 10.3760/cma.j.issn.2095-0160.2017.08.011 Published 2017-08-10 Cite as Chin J Exp Ophthalmol, 2017,35(8): 721-725. Abstract [Download PDF] [Read Full Text] Background Congenital aniridia is a rare bilateral hereditary ophthalmopathy which impact panocular.Researches showed that congenital aniridia can be caused by […]