Severe factor X deficiency in three unrelated Palestinian patients is caused by homozygosity for the mutation c302delG-correlation with thrombin generation and thromboelastometry

Factor X (FX) is one of the vitamin K-dependent serine proteases, which forms the prothrombinase complex converting prothrombin into thrombin. To search for mutations in F10 gene giving rise to severe FX deficiency and to study the contribution of thrombin generation and thromboelastometry as a tool...

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Veröffentlicht in:Blood coagulation & fibrinolysis 2011-12, Vol.22 (8), p.673-679
Hauptverfasser: Livnat, Tami, Shenkman, Boris, Kenet, Gili, Tamarin, Ilia, Gillis, Samuel, Varon, David, Iijima, Kenji, Zivelin, Ariella, Salomon, Ophira
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Sprache:eng
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Zusammenfassung:Factor X (FX) is one of the vitamin K-dependent serine proteases, which forms the prothrombinase complex converting prothrombin into thrombin. To search for mutations in F10 gene giving rise to severe FX deficiency and to study the contribution of thrombin generation and thromboelastometry as a tool for evaluation of hemostasis. Mutations in the F10 gene were sought by direct sequencing of all the eight exons and intron/exon boundaries. Thrombin generation and thromboelastometry were performed. Three unrelated Palestinian patients had undetectable FX level (
ISSN:0957-5235
1473-5733
DOI:10.1097/MBC.0b013e32834ad785