Tag: Frameshift mutation

Screening of pathogenic mutation in a family with Axenfeld-Rieger syndrome by whole exome sequencing

2022, No. 10, Clinical Science

·Clinical research· Pathogenic mutation screening in a family with Axenfeld-Rieger Syndrome by whole exome sequencing Wang Qi, Liu Xinna, Shao Zhengbo, Yuan Huiping Department of Ophthalmology, the Second Affiliated Hospital of Harbin Medical Universiiy, The Key Laboratory of Myocardial Ischemia, Harbin Medical University, Ministry Educatton, Future Medical Laboratory, the Second Affiilated Hospital of Harbin Medical […]

A novel mutation in PAX6 gene causing congenital iris coloboma with congenital cataract in a pedigree

2022, No. 10, Clinical Science

Authors: Gu Jing,  Yi Haoan,  Zha Xu,  Kong Yanbo,  Jiang Weiyang,  Yang Fang,  Li Fan,  He Yongshu DOI: 10.3760/cma.j.cn115989-20201012-00686 Published 2022-10-10 Cite asChin J Exp Ophthalmol, 2022, 40(10): 966-971. Abstract                                       [View PDF] [Read Full Text]  Objective To identify the pathogenic gene and inheritance […]

A novel PAX6 mutation in a Chinese family with congenital aniridia

2016, No. 07, Clinical Science

Authors: Liu Yuying,  Liu Qiong,  Wan Wencui,  Yang Ge,  Xia Kun,  Jin Xuemin DOI: 10.3760/cma.j.issn.2095-0160.2016.07.006 Published 2016-07-10 Cite as Chin J Exp Ophthalmol, 2016,34(7): 602-606. Abstract                               [Download PDF] [Read Full Text] Background Aniridia is a rare congenital hereditary eye disease.Studies determined that PAX6 gene mutation is closely associated […]