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

EPCACAN, Serdar; MENEGATTI, Marzia; AKBAYRAM, Sinan; CAIRO, Andrea; PEYVANDI, Flora; Öner, Ahmet

doi:10.1111/eci.12511

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, cilt.45, sa.10, ss.1087-1091, 2015 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 45 Sayı: 10
Basım Tarihi: 2015
Doi Numarası: 10.1111/eci.12511
Dergi Adı: EUROPEAN JOURNAL OF CLINICAL INVESTIGATION
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.1087-1091
Van Yüzüncü Yıl Üniversitesi Adresli: Evet

Özet

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.