Article
Mutation Analysis of the TGFBI Gene in Consecutive Korean Patients With Corneal Dystrophies.
Annals of laboratory medicine - 1 May 2015
Song Ju Sun, Lim Dong Hui, Chung Eui-Sang, Chung Tae-Young, Ki Chang-Seok
Abstract excerpt
BACKGROUND: Mutations in the transforming growth factor β-induced gene (TGFBI) are major causes of genetic corneal dystrophies (CDs), which can be grouped into TGFBI CDs. Although a few studies have reported the clinical and genetic features of Korean patients with TGFBI CD, no data are available regarding the frequency and spectrum of TGFBI mutations in a consecutive series of Korean patients with clinically...
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