Article
BIGH3 gene mutations and rapid detection in Korean patients with corneal dystrophy.
Cornea - 1 Nov 2001
Kim H S, Yoon S K, Cho B J, Kim E K, Joo C K
Abstract excerpt
PURPOSE: Mutations in the BIGH3 gene on chromosome 5q31 cause four distinct autosomal dominant corneal dystrophies. We sought to determine whether the BIGH3 gene mutation was responsible for corneal dystrophy in Korean patients. METHODS: Polymerase chain reaction single strand conformational polymorphism (PCR-SSCP) analysis was performed with the DNA from patients and healthy individuals. We sequenced the PCR...
Topics
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Child
- Chromosomes, Human, Pair 5
- Corneal Dystrophies, Hereditary
- DNA Mutational Analysis
- DNA Primers
- Extracellular Matrix Proteins
- Female
- Genetic Testing
- Humans
- Korea
- Male
- Middle Aged
- Mutation
- Neoplasm Proteins