Article
Detection of factor VIII gene mutations by high-resolution melting analysis.
Clinical chemistry - 1 Dec 2007
Laurie Andrew D, Smith Mark P, George Peter M
Abstract excerpt
BACKGROUND: Single base-pair substitution mutations in the gene for coagulation factor VIII, procoagulant component (hemophilia A) (F8) account for approximately 50% of severe cases of hemophilia A (HA), and almost all moderate or mild cases. Because F8 is a large gene, mutation screening using denaturing HPLC or DNA sequencing is time-consuming and expensive. METHODS: We evaluated high-resolution melting...
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