1. Bertina RM, Koeleman BPC, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, van der Velde PA, Reitsma PH. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369: 64-67.
2. Liu X-Y, Nelson D, Grant C, et al. Molecular detection of a common mutation in coagulation factor V causing thrombosis via hereditary resistance to activated protein C. Diagn Mol Pathol 1995; 4: 191-197.
3. Nichols WC, Amano K, Cacheris PM, Figuereido MS, Michaelides K, Schwaab R, Hoer L, Kaufmann RJ, Ginsburg D. Moderation of hemophilia A phenotype by factor V R506Q mutation. Blood 1996; 88: 1183-1187.
4. Lee H, Walker IR, Teitel J, Poon MC, Ritchie B, Akabutu J, Sinclair GD, Pai M, Wu JW, Reddy S, Carter C, Growe G, Lillicrap D, Lam M, Blaichman M.A. Effect of the factor V Leiden mutation on the clinical expression of severe hemophilia A. Thromb Haemost 2000; 823 (3): 387-391.
5. Escuriola Ettinghausen S, Halimeh K, Kurnik R, Shobess C, Wermes C, Junker R, Kreuz W, Pollmann H, Nowak-Gottl U. Symptomatic onset of severe hemophilia A in childhood is dependent on the presence of prothrombotic risk factors. Thromb Haemost 2001; 85 (2): 218-220.
6. Olcay L, Gurgey A, Topaloglu H, Altay S, Parlak H, Firat M. Cerebral infarct associated with factor V Leiden mutation in a boy with hemophilia A. Am J Hematol 1997; 56 (3): 189-190.
7. Ettinghausen CE, Saguer IM, Kreutz W. Portal vein thrombosis in a patient with severe hemophilia A and FV G1691A mutation during continious infusion of FVIII after intramural jejunal bleeeding-successful thrombolysis under heparin therapy. Eur L Pediatr 1999; 158 (Suppl. 3): S180-S182.
8. Cumming M, Keeney S, Salden A, Bhavnani M, Shwe KH, Hay CR. The prothrombin gene G20210A variant: prevalence in a U.K. anticoagulant clinic population. Br J Haematol 1997; 98 (2): 353-355.
9. Lillicrap D. Molecular diagnosis of inherited bleeding disorders and thrombophilia. Semin Hematol 1999; 36 (4): 340-351.
10. Miller S, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16: 1215.
11. Sambrook J, Fritsch EF, Maniatis T. Molecular Cloning: a Laboratory Manual, 2nd edition. Cold Spring Harbor Laboratories, Cold Spring Harbor, NY, USA, 1989.
12. Saiki RK, Gelfand DH, Stoffel S, Scharf SJ, Higuchi R, Horn GT, Mullis KB, Erlich EH. Primer-directed enzymatic amplification of DNA with thermostable DNA polymerase. Science 1988; 239: 487-491.
13. Lakich D, Kazazian HH Jr, Antonarakis S, Gitschier J. Inversions disrupting the factor VIII gene are a common cause of severe hemophilia A. Nature Genet 1993; 5: 236-241.
