Castoldi, E., Lunghi, B., Mingozzi, F., Muleo, G., Redaelli, R., Mariani, G. & Bernadi, F. (2001) A missense mutation (Y1702C) in the coagulation factor V gene is a frequent cause of factor V deficiency in the Italian population. Haematologica, 86, 629–633. Cui, J., O’Shea, K.S., Purkayastha, A.A., Saunders, T.L. & Ginsberg, D. (1996) Fatal haemorrhage and incomplete block to embryogenesis in mice lacking coagulation factor V. Nature, 384, 66–68. Duckers, C., Simioni, P., Spiezia, L., Radu, C., Gavasso, S., Rosing, J. & Castoldi, E. (2008) Low plasma levels of tissue factor pathway inhibitor in patients with congenital factor V deficiency. Blood, 112, 3615–3623. Duckers, C., Simioni, P., Rosing, J. & Castoldi, E. (2009) Advances in understanding the bleeding diathesis in factor V deficiency. British Journal of Hematology, 146, 17–26. Duckers, C., Simioni, P., Spiezia, L., Radu, C., Dabrilli, P., Gavasso, S., Rosing, J. & Castoldi, E. (2010) Residual platelet factor V ensures thrombin generation in patients with severe congenital factor V deficiency and mild bleeding symptoms. Blood, 115, 879–886. Guasch, J.F., Cannegieter, S., Reitsma, P.H., van ‘t Veer-Korthof, E.T. & Bertina, R.M. (1998) Severe coagulation factor V deficiency caused by a 4 bp deletion in the factor V gene. British Journal of Hematology, 101, 32–39. Jenny, R.J., Pittman, D.D., Toole, J.J., Kriz, R.W., Aldape, R.A., Hewick, R.M., Kaufman, R.J. & Mann, K.G. (1987) Complete cDNA and derived amino acid sequence of human factor V. Proceedings of the National Academy of Sciences USA, 84, 4846–4850. Krishnaswamy, S., Nesheim, M.E., Pryzdial, E.L. & Mann, K.G. (1993) Assembly of prothrombinase complex. Methods in Enzymology, 222, 260–280. Lak, M., Sharifian, R., Peyvandi, F. & Mannucci, P.M. (1998) Symptoms of inherited factor V deficiency in 35 Iranian patients. British Journal of Haematology, 103, 1067–1069. Montefusco, M.C., Duga, S., Asselta, R., Malcovati, M., Peyvandi, F., Santagostino, E., Mannucci, P.M. & Tenchini, M.L. (2003) Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V: broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutations. Blood, 102, 3210–3216.