Article
Analysis of TGFBI gene mutations in Chinese patients with corneal dystrophies and review of the literature.
Molecular vision - 30 Jun 2010
Yang Juhua, Han Xiaoli, Huang Dinggou, Yu Lin, Zhu Yihua, Tong Yi, Zhu Binliang, Li Chuanbao, Weng Mingshe, Ma Xu
Abstract excerpt
PURPOSE: To analyze human transforming growth factor b-induced (TGFBI) gene mutations in Chinese patients with corneal dystrophies (CDs). METHODS: Twenty-one families with corneal dystrophies were subjected to phenotypic and genotypic characterization. The corneal phenotypes of patients were documented by slit lamp photography. Mutation screening of the coding regions of TGFBI was performed by direct sequencing....
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