Mutational Epidemiology of Congenital Fibrinogen Disorders

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

THROMBOSIS AND HAEMOSTASIS, cilt.118, sa.11, ss.1867-1874, 2018 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 118 Sayı: 11
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1055/s-0038-1673685
  • Dergi Adı: THROMBOSIS AND HAEMOSTASIS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1867-1874
  • Anahtar Kelimeler: afibrinogenemia, congenital, hypofibrinogenemia, dysfibrinogenemia, hypodysfibrino-genaemia, mutation, BLEEDING DISORDERS, DYSFIBRINOGENEMIA, AFIBRINOGENEMIA, HYPOFIBRINOGENEMIA, THROMBOPHILIA, DEFICIENCIES, MANAGEMENT, DIAGNOSIS, STORAGE
  • Bursa Uludağ Üniversitesi Adresli: Evet

Özet

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.