Mutational Epidemiology of Congenital Fibrinogen Disorders

Casini A., Blondon M., Tintillier V., Goodyer M., Sezgin Evim M., Gunes A., ...More

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

  • Publication Type: Article / Article
  • Volume: 118 Issue: 11
  • Publication Date: 2018
  • Doi Number: 10.1055/s-0038-1673685
  • Journal Name: THROMBOSIS AND HAEMOSTASIS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1867-1874
  • Keywords: afibrinogenemia, congenital, hypofibrinogenemia, dysfibrinogenemia, hypodysfibrino-genaemia, mutation, BLEEDING DISORDERS, DYSFIBRINOGENEMIA, AFIBRINOGENEMIA, HYPOFIBRINOGENEMIA, THROMBOPHILIA, DEFICIENCIES, MANAGEMENT, DIAGNOSIS, STORAGE
  • Bursa Uludag University Affiliated: Yes

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.