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A novel mutation impairing the tertiary structure and stability of γC‐crystallin (CRYGC) leads to cataract formation in humans and zebrafish lens
Author(s) -
Li XiaoQiao,
Cai HongChen,
Zhou ShiYi,
Yang JuHua,
Xi YiBo,
Gao XiaoBo,
Zhao WeiJie,
Li Peng,
Zhao GuangYu,
Tong Yi,
Bao FanChen,
Ma Yan,
Wang Sha,
Yan YongBin,
Lu CaiLing,
Ma Xu
Publication year - 2012
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.21648
Subject(s) - zebrafish , crystallin , mutation , biology , mutant , genetics , protein tertiary structure , phenotype , microbiology and biotechnology , gene , biochemistry
Congenital cataract is one of the leading causes of human blindness. In this study, we identified a novel, heterozygous c.385G

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