Severe factor XI deficiency caused by a Gly555 to Glu mutation (factor XI–Glu555): a cross‐reactive material positive variant defective in factor IX activation

During normal hemostasis, the coagulation protease factor (F)XIa activates FIX. Hereditary deficiency of the FXIa precursor, FXI, is usually associated with reduced FXI protein in plasma, and circulating dysfunctional FXI variants are rare. We identified a patient with

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Bibliographische Detailangaben
Veröffentlicht in:	Journal of thrombosis and haemostasis 2004-10, Vol.2 (10), p.1782-1789
Hauptverfasser:	Zivelin, A., Ogawa, T., Bulvik, S., Landau, M., Toomey, J. R., Lane, J., Seligsohn, U., Gailani, D.
Format:	Artikel
Sprache:	eng
Schlagworte:	Antithrombin III - pharmacology Binding Sites bleeding disorder factor IX Factor IX - metabolism Factor XI - analysis Factor XI - genetics Factor XI - metabolism Factor XI Deficiency - genetics factor XIa Homozygote Humans Kinetics Models, Molecular Mutation, Missense Protein Binding - genetics Static Electricity
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Beschreibung
Zusammenfassung:	During normal hemostasis, the coagulation protease factor (F)XIa activates FIX. Hereditary deficiency of the FXIa precursor, FXI, is usually associated with reduced FXI protein in plasma, and circulating dysfunctional FXI variants are rare. We identified a patient with
ISSN:	1538-7933 1538-7836 1538-7836
DOI:	10.1111/j.1538-7836.2004.00882.x