Article
The factor V (FV) gene ASP79HIS polymorphism modulates FV plasma levels and affects the activated protein C resistance phenotype in presence of the FV Leiden mutation.
Haematologica - 1 Mar 2003
Bossone Anna, Cappucci Filomena, D'Andrea Giovanna, Brancaccio Vincenzo, Cibelli Giuseppe, Iannaccone Luigi, Grandone Elvira, Margaglione Maurizio
Abstract excerpt
BACKGROUND AND OBJECTIVES: In carriers of the factor V (FV) Leiden mutation, different trans-acting gene variants (HR2 haplotype and FV Cambridge mutation) affect activated protein C (APC) sensitivity. Among a series of FV gene variants characterized, the Asp79His polymorphism appeared to be a good candidate for the modulation of FV activity. DESIGN AND METHODS: In a group of 150 apparently healthy subjects...
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