Homozygous type 2N R854W von Willebrand factor is poorly secreted and causes a severe von Willebrand disease phenotype
Open Access
- 6 September 2010
- journal article
- case report
- Published by Elsevier BV in Journal of Thrombosis and Haemostasis
- Vol. 8 (9), 2011-2016
- https://doi.org/10.1111/j.1538-7836.2010.03971.x
Abstract
No abstract availableKeywords
This publication has 24 references indexed in Scilit:
- The mutation N528S in the von Willebrand factor (VWF) propeptide causes defective multimerization and storage of VWFBlood, 2010
- Genetic alteration of the D2 domain abolishes von Willebrand factor multimerization and trafficking into storageJournal of Thrombosis and Haemostasis, 2009
- Clinical and molecular predictors of thrombocytopenia and risk of bleeding in patients with von Willebrand disease type 2B: a cohort study of 67 patientsBlood, 2009
- Factor VIII accelerates proteolytic cleavage of von Willebrand factor by ADAMTS13Proceedings of the National Academy of Sciences of the United States of America, 2008
- Mechanism of platelet adhesion to von Willebrand factor and microparticle formation under high shear stressBlood, 2006
- Cysteine-mutations in von Willebrand factor associated with increased clearanceJournal of Thrombosis and Haemostasis, 2005
- Recombinant expression of mutations causing von Willebrand disease type Normandy: characterization of a combined defect of factor VIII binding and multimerizationThrombosis and Haemostasis, 2004
- Analysis of intracellular storage and regulated secretion of 3 von Willebrand disease–causing variants of von Willebrand factorBlood, 2003
- Type 2N von Willebrand disease: clinical manifestations, pathophysiology, laboratory diagnosis and molecular biologyBest Practice & Research Clinical Haematology, 2001
- Recessive inheritance of von Willebrand's disease type IThe Lancet, 1993