Genetic Etiology of Congenital Coagulopathies in Uruguay
Preliminary Results from the GENHEU (Genetics of Hemophilia in Uruguay) Study
References
Iorio A, Stonebraker J, Chambost H, Makris M, Coffin D, Herr C, et al. Establishing the prevalence and prevalence at birth of hemophilia in males: a meta-analytic approach using national registries. Ann Intern Med 2019; 171(8):540-6. doi: 10.7326/M19-1208.
Seaman CD, Xavier F, Ragni MV. Hemophilia A (Factor VIII
Deficiency). Hematol Oncol Clin North Am 2021; 35(6):1117-29. doi: 10.1016/j.hoc.2021.07.006.
James PD, Connell NT, Ameer B, Di Paola J, Eikenboom J, Giraud N, et al. ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease. Blood Adv 2021; 5(1):280-300. doi: doi: 10.1182/bloodadvances.2020003265.
Batlle J, Pérez-Rodríguez A, Corrales I, Borrás N, Costa Pinto J, López-Fernández MF, et al. Update on molecular testing in von Willebrand disease. Semin Thromb Hemost 2019; 45(7):708-19. doi: 10.1055/s-0039-1679922.
Vega Y, Faguaga M, Abelleyro M, De Brasi C, Bandinelli E, Sans M, et al. Inversión de los intrones 1 y 22 del F8 en pacientes con hemofilia A severa y portadoras del noreste de Uruguay. Arch Pediatr Urug 2020; 91(2):84-9. doi: 10.31134/ap.91.2.3.
