Article
A novel cataract-related mutation R10P in γA-crystallin increases susceptibility to thermal shock and ultraviolet radiation of γA-crystallin.
Biochemical and biophysical research communications - 20 Dec 2024
Xu Wanyue, Chen Jing, Chen Fanrui, Wu Wei, Lin Ningqin, Guo Yan, Hu Lidan, Chen Xiangjun
Abstract excerpt
Congenital cataract is one of the most common causes of childhood blindness, typically resulting from genetic mutations. Over a hundred gene mutations associated with congenital cataract have been identified, with approximately half occurring in the Crystallin genes. In this study, we identified a novel γA-crystallin pathogenic mutation (c. 29G > C, p. Arg10Pro (R10P)), from a four-generation Chinese family with...
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