Article
Frequency of the p.Gly262Asp mutation in congenital Factor X deficiency.
European journal of clinical investigation - 1 Oct 2015
Epcacan Serdar, Menegatti Marzia, Akbayram Sinan, Cairo Andrea, Peyvandi Flora, Oner Ahmet F
Abstract excerpt
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. AIM: We analysed the clinical manifestations, laboratory...
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