Article
Novel and known mutations of TGFBI, their genotype-phenotype correlation and structural modeling in 3 Chinese families with lattice corneal dystrophy.
Molecular vision - 15 Feb 2010
Zhong Xingwu, Chen Suqin, Huang Weijun, Yang Jun, Chen Xiaolian, Zhou Yan, Zhou Qiang, Wang Yiming
Abstract excerpt
PURPOSE: To report novel transforming growth factor beta-induced (TGFBI) mutations responsible for lattice corneal dystrophy (LCD), the associated genotype-phenotype correlation, and structural changes in the mutant proteins in three Chinese families. METHODS: Three unrelated Chinese families were diagnosed as Type I LCD. Mutations in TGFBI were detected by sequencing all of the 17 exons and splice sites of the...
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