Article
Single-strand conformation polymorphism (SSCP) analysis of the molecular pathology of hemophilia B.
Human mutation - 1 Jan 1993
David D, Rosa H A, Pemberton S, Diniz M J, Campos M, Lavinha J
Abstract excerpt
In the present study, we report the application of polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) analysis to the screening of seven functionally important factor IX gene (FIX) regions (total length 2.66 kb) in 9 unrelated haemophilia B patients of Portuguese or African origin. In eight of the patients an altered migration pattern of single-stranded DNA was observed. Direct...
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