Open AccessIdentification of a Novel GJA3 Mutation in Congenital Nuclear Cataract
Author(s) -
Lamei Yuan,
Yi Guo,
Junhui Yi,
Jingjing Xiao,
Jinzhong Yuan,
Xiong Wang,
Hongbo Xu,
Zhixiong Yang,
Jianguo Zhang,
Hao Deng
Publication year - 2015
Publication title -
optometry and vision science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.779
H-Index - 97
eISSN - 1538-9235
pISSN - 1040-5488
DOI - 10.1097/opx.0000000000000518
Subject(s) - proband , exome sequencing , sanger sequencing , missense mutation , genetics , exome , mutation , genetic counseling , genetic heterogeneity , gene , medicine , biology , phenotype
Congenital cataract is a visual impairment that needs correction as early as possible after birth. This study aimed to identify whether genetic defects exist in a Chinese Han pedigree with congenital nuclear cataract.