Tag: Base sequence

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 […]

Screening of TYR gene mutations and clinical classification in oculocutaneous albinism patients

2016, No. 10, Clinical Science

Authors：Wang Liming,  Han Ruifang,  Ying Ming,  Hao Peng,  Li Ningdong DOI: 10.3760/cma.j.issn.2095-0160.2016.10.008 Published 2016-10-10 Cite as Chin J Exp Ophthalmol, 2016,34(10): 905-909. Abstract                              [Download PDF] [Read Full Text] Background Oculocutaneous albinism (OCA) is a hereditary disease of pigment absence in eyes, skin […]