Tag: Mutations

Detection of disease-causing gene in a Hui congential cataract pedigree by exon combined target region capture sequencing chip

2015, No. 08, Clinical Science

Authors: Rong Weining,  Zou Gang,  Sheng Xunlun,  Li Huiping,  Zhang Fangxia DOI: 10.3760/cma.j.issn.2095-0160.2015.08.010 Published 2015-08-10 Cite as Chin J Exp Ophthalmol, 2015,33(8): 711-715. Abstract                              [Download PDF] [Read Full Text] Background Congenital cataract is an important cause of blindness and amblyopia in children, […]

A recurrent mutation of CRYGD gene in a northern Chinese family with autosomal dominant congenital nuclear cataract

2015, No. 08, Clinical Science

Authors: Zhang Xiaohui,  Liu Weihua,  Dong Bing,  Chen Jieqiong,  Li Yang DOI: 10.3760/cma.j.issn.2095-0160.2015.08.012 Published 2015-08-10 Cite as Chin J Exp Ophthalmol, 2015,33(8): 722-726. Abstract                              [Download PDF] [Read Full Text] Background Congenital cataract is a major cause for blindness of childhood. Genetic […]