Article
Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan.
American journal of ophthalmology - 1 Oct 2000
Mashima Y, Yamamoto S, Inoue Y, Yamada M, Konishi M, Watanabe H, Maeda N, Shimomura Y, Kinoshita S
Abstract excerpt
PURPOSE: To evaluate the incidence of BIGH3 gene mutations in 164 unrelated Japanese patients with corneal stromal dystrophies with an autosomal dominant trait. METHODS: Data were collected at two major institutions in the eastern and western parts of Japan, where molecular genetic analysis was performed for diagnostic purpose. RESULTS: The incidence of mutations was ranked as follows: 118 patients (72%), the...
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