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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Bibliographic Details
Published in:Journal of thrombosis and haemostasis 2004-10, Vol.2 (10), p.1782-1789
Main Authors: Zivelin, A., Ogawa, T., Bulvik, S., Landau, M., Toomey, J. R., Lane, J., Seligsohn, U., Gailani, D.
Format: Article
Language:English
Subjects:
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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Description
Summary: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