Concerns about the Mutations Identified in a Case of Familial Coagulation Factor V Deficiency: Factor V Stanford

• References

• 1 Zehnder JL, Hiraki DD, Jones CD, Gross N, Grumet FC. Familial coagulation factor V deficiency caused by a novel 4 base pair insertion in the factor V gene: factor V Stanford. Thromb Haemost 1999; 82: 1097-9.
• 2 Jenny RJ, Pittman DD, Toole JJ, Kriz RW, Aldape RA, Hewick RM, Kaufman RJ, Mann KG. Complete cDNA and derived amino acid sequence of human factor V. Proc Natl Acad Sci USA 1987; 84: 4846-50.
• 3 Guasch JF, Lensen RP, Bertina RM. Molecular characterization of a type I quantitative factor V deficiency in a thrombosis patient that is »pseudo homozygous« for activated protein C resistance. Thromb Haemost 1997; 77: 252-7.