Article
Characterization of an immunologic polymorphism (D79H) in the heavy chain of factor V.
Journal of thrombosis and haemostasis : JTH - 1 Jun 2004
van der Neut Kolfschoten M, Dirven R J, Poort S R, van Wijk R, Vos H L, Rosendaal F R, Bertina R M
Abstract excerpt
BACKGROUND: During the study of a family with hereditary factor (F)V deficiency (FV Amersfoort, 1102 A > T in exon 7) we identified an individual with 5% FV heavy chain antigen (FV(HC)) and 50% FV light chain antigen (FV(LC)). Further testing revealed that apart from the FV Amersfoort allele a second variant FV allele was segregating in this family, which encodes for a FV molecule with a reduced affinity for mAb...
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