Article
A novel gene mutation in the 60s loop of human coagulation factor VII - inhibition of interdomain crosstalk.
Thrombosis and haemostasis - 1 Jan 2004
Kavlie Anita, Wiiger Merete Thune, Husbyn Mette, Stormorken Helge, Prydz Hans
Abstract excerpt
A novel mutation in the factor VII gene resulting in procoagulant activity of 7.5% and antigen levels of 23% is presented. Single-stranded conformational polymorphism and DNA sequencing analysis revealed heterozygous shifts, and mutations were detected in exons 5, 7 and 8. The mutant L204P in exon 7 was novel, while the common polymorphisms, H115H and R353Q, were located in exons 5 and 8, respectively. The...
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