Tag: DNA mutational analysis

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 […]

Clinical phenotype and maternal mutation analysis of Leber hereditary optic neuropathy

2016, No. 10, Clinical Science

Authors: Huang Lyuzhen,  Li Tianqi,  Wang Bin,  Li Xiaoxin DOI: 10.3760/cma.j.issn.2095-0160.2016.10.012 Published 2016-10-10 Cite as Chin J Exp Ophthalmol, 2016,34(10): 920-924. Abstract                              [Download PDF] [Read Full Text] Background Leber hereditary optic neuropathy (LHON) is a maternally inherited disease caused by mitochondrial DNA (mtDNA) mutation with the […]