Article
Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy.
Japanese journal of ophthalmology - 1 Jan 2000
Kobayashi Akira, Fujiki Keiko, Murakami Akira, Kato Takuji, Chen Li-Zhong, Onoe Hitoshi, Nakayasu Kiyoo, Sakurai Mayumi, Takahashi Mami, Sugiyama Kazuhisa, Kanai Atsushi
Abstract excerpt
PURPOSE: To determine whether Japanese patients with Fuchs' endothelial corneal dystrophy (FECD) and posterior polymorphous dystrophy (PPMD) carry mutations in the COL8A2 gene, and to investigate the possible pathogenicity of the COL8A2 gene in these corneal dystrophies. METHODS: DNA analysis of the COL8A2 gene was performed in 15 unrelated Japanese patients with FECD, and 5 patients with PPMD using polymerase...
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