Tag: Whole exome sequencing

Analysis of GJA3 mutation associated with a Chinese family with autosomal dominant congenital cataract by whole-exome sequencing

2016, No. 10, Clinical Science

Authors：Liu Yuying,  Wan Wencui,  Yang Ge,  Pang Xuena,  Yang Guoguo,  Jin Xuemin DOI: 10.3760/cma.j.issn.2095-0160.2016.10.011 Published 2016-10-10 Cite as Chin J Exp Ophthalmol, 2016,34(10): 916-919. Abstract                              [Download PDF] [Read Full Text] Congenital cataract is one of the important reasons for the blindness of children, and most congenital […]

Compound heterozygous mutations of CRB1 gene in a Chinese family with Leber congenital amaurosis by whole exome sequencing

2018, No. 07, Clinical Science

Authors: Cao Yingjie,  Xiao Xiaoqiang,  Chen Shaowan,  Zheng Yuqian,  Chen Haoyu DOI: 10.3760/cma.j.issn.2095-0160.2018.07.008 Published 2018-07-10 Cite as Chin J Exp Ophthalmol, 2018,36(7): 526-530. Abstract                              [Download PDF] [Read Full Text] Objective To investigate the disease-causing mutation in a family with Leber congenital amaurosis (LCA). Methods A Chinese […]

Mutation analysis of the autosomal dominant Weill-Marchesani syndrome and genotype-phenotype review

2018, No. 07, Clinical Science

Authors: Li Jie,  Xing Yasi,  Li Zhanrong,  Qin Fangyuan,  Dai Shuzhen DOI: 10.3760/cma.j.issn.2095-0160.2018.07.006 Published 2018-07-10 Cite as Chin J Exp Ophthalmol, 2018,36(7): 514-518. Abstract                              [Download PDF] [Read Full Text] Objective To screen the disease-causing genes in an autosomal dominant(AD)Weill-Marchesani syndrome (WMS) family from Henan province in […]

Analysis of genetic susceptibility to proliferative diabetic retinopathy in Han patients with type 2 diabetes from Southern China by whole exome sequencing and SnaPshot

2018, No. 10, Clinical Science

Authors: Xie Jie,  Jiang Zhengxuan,  Zhang Liang,  Cui Ying,  Wang Jun,  Zhang Aiping,  Meng Qianli DOI: 10.3760/cma.j.issn.2095-0160.2018.10.008 Published 2018-10-10 Cite as Chin J Exp Ophthalmol, 2018,36(10): 774-779. Abstract                              [Download PDF] [Read Full Text] Objective To research the genetic susceptibility of proliferative diabetic retinopathy (PDR) in Han patients with type 2 diabetes from […]