FV and APC resistance: the plot thickens.
In this issue of Blood, Nogami et al report on a novel factor V (FV) gene mutation (FV Trp1920→Arg, FVNara) associated with activated protein C (APC) resistance and a severe thrombotic phenotype in a young Japanese patient. Since the affected amino acid residue is located in the light chain of FV, far from the known APC-cleavage sites, this discovery may afford new insights into the molecular mechanisms of APC resistance.
MAASTRICHT UNIVERSITY.
Elisabetta
E
Castoldi
D020016:Activated Protein C Resistance / Q000235:genetics*; D005165:Factor V / Q000235:genetics*; D006801:Humans; D008297:Male; D017354:Point Mutation; D020246:Venous Thrombosis / Q000235:genetics*
C095381:factor V Leiden; D005165:Factor V