Article
Novel mutations in the myocilin gene in Japanese glaucoma patients.
Human mutation - 1 Sept 2000
Kubota R, Mashima Y, Ohtake Y, Tanino T, Kimura T, Hotta Y, Kanai A, Tokuoka S, Azuma I, Tanihara H, Inatani M, Inoue Y, Kudoh J, Oguchi Y, Shimizu N
Abstract excerpt
Myocilin is a gene responsible for juvenile onset primary open angle glaucoma (POAG) mapped as the GLC1A locus and, many mutations have been reported worldwide. Some mutations were found not only in patients with juvenile onset POAG, but also in patients with late onset POAG and in patients with normal tension glaucoma. To investigate the mutation prevalence in Japan, we performed a mutation analysis in 140...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.