Article
Mutation analysis of factor VIII in Korean patients with severe hemophilia A.
International journal of hematology - 1 Jun 2010
You Chur-Woo, Son Hee-Sook, Kim Hee Jin, Woo Eui-Jeon, Kim Soon-Ae, Baik Haing-Woon
Abstract excerpt
Hemophilia A is an X-linked recessive disorder caused by mutations of the factor VIII gene. The mutation spectrum has been reported in various populations, but not in Koreans. Mutation analysis of the factor VIII gene was performed in 22 unrelated Korean patients with severe hemophilia A. We extracted genomic DNA from their blood, and assessed intron inversions, deletions, and point mutations by direct DNA...
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