Aparato Locomotor



Caracterización de tres mutaciones en el gen de la antitrombina

  1. Ye S, Goldsmith EJ. Serpins and other covalent protease inhibitors. Curr Opin Struct Bio 2001; 11:740-5.
  2. Ishiguro K, Kojima T, Kadomatsu K, Nakayama Y, Takagi A, Suzuki M, et al. Complete antithrombin deficiency in mice results in embryonic lethality. J Clin Invest 2000; 106: 873-8.
  3. Egeberg O. Inherited antithrombin deficiency causing thrombophilia. Thromb Diath Haemorrh 1965; 13: 516-30.
  4. Prochownik EV, Antonarakis S, Bauer KA, Rosenberg RD, Fearon ER, Orkin SH. Molecular heterogeneity of inherited antithrombin III deficiency. N Engl J Med 1983; 308:1549-52.
  5. Bayston T, Lane D. Imperial College of London. Antithrombin mutation database. http://wwwfom.sk.med.ic.ac.uk/medicine/about/divis ions/is/haemo/coag/antithrombin.
  6. OMIM. http://www.ncbi.nlm.nih.gov/entrez/ dispomim.cgi?id=107300.
  7. HGMD. http://www.hgmd.cf.ac.uk/ac/gene.php? gene=SERPINC1.
  8. Tait RC, Walker ID, Davidson JF, Islam SI, Mitchell R. Antithrombin III activity in healthy blood donors: age and sex related changes and prevalence of asymptomatic deficiency. Br J Haematol 1990; 75:141-42.
  9. Kottke-Marchant K, Duncan A. Antithrombin deficiency: issues in laboratory diagnosis. Arch Pathol Lab Med 2002; 126:1326-336.
  10. Corral J, González-Conejero R, Manuel Soria JM, González-Porras JR, Pérez-Ceballos E, Lecumberri R, et al. A nonsense polymorphism in the protein Zdependent protease inhibitor increases the risk for venous thrombosis. Blood 2006; 108:177-83.
  11. Corral J, Rivera J, Martinez C, Gonzalez-Conejero R, Miñano A, Vicente V. Detection of conformational transformation of antithrombin in blood with crossed immunoelectrophoresis: New application for a classical method. J Lab Clin Med 2003; 142:298-305.
  12. Heit JA, Silverstein MD, Mohr DN, Petterson TM, O'Fallon WM, Melton LJ 3rd. Predictors of survival after deep vein thrombosis and pulmonary embolism: a population-based, cohort study. Arch Intern Med 1999; 159:445-53.
  13. Pabinger I, Schneider B. Thrombotic risk in hereditary antithrombin III, protein C, or protein S deficiency. A cooperative, retrospective study. Gesellschaft fur Thrombose- und Hamostaseforschung (GTH) Study Group on Natural Inhibitors. Arterioscler Thromb Vasc Biol 1996; 16:742-8.
  14. Muta T, Okamura T, Kawamoto M, Ichimiya H, Yamanaka M,Wada Y, et al. Successful therapy with argatroban forsuperior mesenteric vein thrombosis in a patient with congenital antithrombin deficiency. Eur J Haematol 2005; 75:167-70.
  15. Takenaga M, Horinouchi K, Shirieda K, Fukudome T, Fujimoto T. A novel nonsense mutation in the antithrombin III gene (Ser365 to stop) causing deep and mesenterio venous thromboses. Thromb Haemost 2001; 85:570-1.
  16. Rosendaal FR. Venous thrombosis: a multicausal disease. Lancet 1999; 353:1167-73.
  17. The Serpin Database. Structural medicine. http://www.structmed.cimr.cam.ac.uk/Serpins/serp_r egions/table2.html Last revision August 2006.
  18. Corral J, Vicente V, Carrel RW. Thrombosis as a conformacional disease. Haematologica. 2005; 90:238-46.
  19. Perry DJ. Ectopic transcript analysis in human antithrombin deficiency. Blood Coagulation and Fibrinolysis 1995; 6:531-6.
  20. Mushunje A, Zhou A, Carrell RW, Huntington JA. Heparin-induced substrate behaviour of antithrombin Cambridge II. Blood 2003; 102: 4028-34.


Icono de conformidad con el Nivel Doble-A, de las Directrices de Accesibilidad para el Contenido Web 1.0 del W3C-WAI