Article
[TGFBI gene mutations in three Chinese families with autosomal dominant corneal dystrophy].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2009
Wang Li-ming, Wang Yu-chuan, Qiu De-lai, Ying Ming, Li Ning-dong
Abstract excerpt
OBJECTIVE: To screen the transforming growth factor, beta-induced (TGFBI) gene mutation in three Chinese families with autosomal dominant corneal dystrophy. METHODS: Analysis of the TGFBI gene mutations was performed by direct sequencing of the whole coding regions and exon-intron boundaries of the TGFBI gene in all affected members from the three families. RESULTS: Three kinds of TGFBI gene mutations, R124C and...
Topics
Join the communities discussing this publication.
