Article
Genotyping the factor VIII intron 22 inversion locus using fluorescent in situ hybridization.
Blood cells, molecules & diseases - 15 Feb 2011
Sheen Campbell R, McDonald Margaret A, George Peter M, Smith Mark P, Morris Christine M
Abstract excerpt
The factor VIII intron 22 inversion is the most common cause of hemophilia A, accounting for approximately 40% of all severe cases of the disease. Southern hybridization and multiplex long distance PCR are the most commonly used techniques to detect the inversion in a diagnostic setting, although both have significant limitations. Here we describe our experience establishing a multicolor fluorescent in situ...
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