Frequency of the p.Gly262Asp mutation in congenital Factor X deficiency


EPCACAN S., MENEGATTI M., AKBAYRAM S., CAIRO A., PEYVANDI F., Öner A. F.

EUROPEAN JOURNAL OF CLINICAL INVESTIGATION, vol.45, no.10, pp.1087-1091, 2015 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 45 Issue: 10
  • Publication Date: 2015
  • Doi Number: 10.1111/eci.12511
  • Title of Journal : EUROPEAN JOURNAL OF CLINICAL INVESTIGATION
  • Page Numbers: pp.1087-1091

Abstract

Introduction Congenital factor X (FX) deficiency is a rare bleeding disorder inherited as an autosomal recessive trait with an incidence of 1 :500 000-1 000 000. A total or partial deficiency of FX causes an impairment of clot formation, leading to a haemorrhagic disease, which manifests with bleeding symptoms of different severity, also unprovoked.