Article
Novel triple missense mutations of GUCY2D gene in Japanese family with cone-rod dystrophy: possible use of genotyping microarray.
Molecular vision - 6 Dec 2006
Yoshida Shigeo, Yamaji Yoko, Yoshida Ayako, Kuwahara Rumi, Yamamoto Ken, Kubata Toshiaki, Ishibashi Tatsuro
Abstract excerpt
PURPOSE: To report a novel mutation in the GUCY2D gene in a Japanese family with autosomal dominant cone-rod dystrophy (adCORD), and to examine the possible use of arrayed primer extension (APEX)-based genotyping chip in detecting mutations. METHODS: Genomic DNA was extracted from the peripheral blood of family members with adCORD. It was PCR-amplified, fragmented, and hybridized to APEX-based genotyping...
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