Article
The spectrum of beta ig-h3 gene mutations in Japanese patients with corneal dystrophy.
Cornea - 1 May 2000
Yamamoto S, Okada M, Tsujikawa M, Morimura H, Maeda N, Watanabe H, Inoue Y, Shimomura Y, Kinoshita S, Tano Y
Abstract excerpt
PURPOSE: This study was undertaken to identify beta ig-h3 gene mutations in Japanese patients with granular corneal dystrophy (GCD), Avellino corneal dystrophy (ACD), lattice corneal dystrophy (LCD), and Reis-Bücklers' corneal dystrophy (RBCD). R124H, R124C, R555W, and R555Q mutations have been reported in Europe to cause ACD, LCD type I, GCD, and RBCD, respectively. METHODS: In total, 91 Japanese patients who...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.