Article
Analysis of human transforming growth factor beta-induced gene mutation in corneal dystrophy.
Chinese medical journal - 1 Sept 2004
Li Yang, Sun Xu-guang, Ren Hui-yuan, Dong Bing, Wang Zhi-qun, Sun Xiu-ying
Abstract excerpt
BACKGROUND: Corneal dystrophy is a group of inherited blinding diseases of the cornea. This study was to identify the mutations of the keratoepithelin (KE) gene for proper diagnosis of corneal dystrophy. METHODS: Three families with corneal dystrophy were analysed. Thirteen individuals at risk for corneal dystrophy in family A, the proband and her son in family B, and the proband in family C were examined after...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- Corneal Dystrophies, Hereditary
- Extracellular Matrix Proteins
- Female
- Humans
- Male
- Middle Aged
- Mutation
- Transforming Growth Factor beta
