Tag: CRB1 gene

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 […]