Mutational Epidemiology of Congenital Fibrinogen Disorders


Casini A., Blondon M., Tintillier V., Goodyer M., SEZGİN EVİM M. , Gunes A. , ...More

THROMBOSIS AND HAEMOSTASIS, vol.118, no.11, pp.1867-1874, 2018 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 118 Issue: 11
  • Publication Date: 2018
  • Doi Number: 10.1055/s-0038-1673685
  • Title of Journal : THROMBOSIS AND HAEMOSTASIS
  • Page Numbers: pp.1867-1874
  • Keywords: afibrinogenemia, congenital, hypofibrinogenemia, dysfibrinogenemia, hypodysfibrino-genaemia, mutation, BLEEDING DISORDERS, DYSFIBRINOGENEMIA, AFIBRINOGENEMIA, HYPOFIBRINOGENEMIA, THROMBOPHILIA, DEFICIENCIES, MANAGEMENT, DIAGNOSIS, STORAGE

Abstract

Background: Numerous mutations in FGA, FGB or FGG lead to congenital fibrinogen disorders (CFDs), but their epidemiology is not well characterized. The aim of this study was to evaluate the molecular epidemiology of CFD and to develop a genotyping strategy.