Phenotype associated with the H626P mutation and other changes in the TGFBI gene in Czech families.


AIMS To evaluate mutations in the transforming-growth-factor-beta-induced (TGFBI) gene in patients of Czech origin with autosomal dominant corneal dystrophies. METHODS The coding sequence of the TGFBI gene was analysed in 22 affected Czech individuals from 7 apparently unrelated families. Comparison of phenotype to genotype was performed. RESULTS A… (More)
DOI: 10.1159/000115325