Article
An analysis of BIGH3 mutations in patients with corneal dystrophies in the Kyushu district of Japan.
Japanese journal of ophthalmology - 1 Jan 2000
Yoshida Shigeo, Kumano Yuji, Yoshida Ayako, Hisatomi Toshio, Matsui Hiroyasu, Nishida Teruo, Ishibashi Tatsuro, Matsui Takao
Abstract excerpt
PURPOSE: To assess the involvement of BIGH3 in corneal dystrophies (CD) with an autosomal dominant trait, in patients referred to a hospital in the Kyushu district of Japan. METHODS: Forty-five CD patients from 44 families were studied. Genomic DNA was extracted from peripheral blood, and exons 4 and 12 of the BIGH3 gene were amplified by polymerase chain reaction followed by direct sequencing. RESULTS: In exon...
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