Article
Molecular bases of pseudo-homozygous APC resistance: the compound heterozygosity for FV R506Q and a FV null mutation results in the exclusive presence of FV Leiden molecules in plasma.
Thrombosis and haemostasis - 1 Sept 1998
Castoldi E, Kalafatis M, Lunghi B, Simioni P, Ioannou P A, Petio M, Girolami A, Mann K G, Bernardi F
Abstract excerpt
Pseudo-homozygous APC resistance, the condition resulting from compound heterozygosity for FV R506Q (FV Leiden) and quantitative FV deficiency, provides a natural model to study the interaction between procoagulant and anticoagulant defects. This paper reports a complete FV characterization of a pseudo-homozygous APC resistant thrombotic patient. The expression of the patient's non-Leiden gene was found to be...
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