Associated Papers
Application of genetic testing for the diagnosis of von Willebrand disease.
Seidizadeh O et al.
Journal of Thrombosis and Haemostasis : Jth, 2024
Genetic Background of von Willebrand Disease: History, Current State, and Future Perspectives.
Zolkova J et al.
Seminars in Thrombosis and Hemostasis, 2020
Diagnostic Differentiation of von Willebrand Disease Types 1 and 2 by von Willebrand Factor Multimer Analysis and DDAVP Challenge Test.
Michiels JJ et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2017
A common mechanism by which type 2A von Willebrand disease mutations enhance ADAMTS13 proteolysis revealed with a von Willebrand factor A2 domain FRET construct.
Lynch CJ et al.
Plos One, 2017
L1503R is a member of group I mutation and has dominant-negative effect on secretion of full-length VWF multimers: an analysis of two patients with type 2A von Willebrand disease.
Kashiwagi T et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2008
Management of inherited von Willebrand disease in 2007.
Federici AB et al.
Annals of Medicine, 2007
Classification and characterization of hereditary types 2A, 2B, 2C, 2D, 2E, 2M, 2N, and 2U (unclassifiable) von Willebrand disease.
Michiels JJ et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2006
Impact of mutations in the von Willebrand factor A2 domain on ADAMTS13-dependent proteolysis.
Hassenpflug WA et al.
Blood, 2006
Theoretical structural explanation for Group I and Group II, type 2A von Willebrand disease mutations.
O'Brien LA et al.
Journal of Thrombosis and Haemostasis : Jth, 2005
Molecular modeling of the von Willebrand factor A2 Domain and the effects of associated type 2A von Willebrand disease mutations.
Sutherland JJ et al.
Journal of Molecular Modeling, 2004
Rapid genotypic diagnosis of type 2A von Willebrand's disease by heteroduplex analysis.
Culpan D et al.
Clinical and Laboratory Haematology, 1998
Molecular modeling of ligand and mutation sites of the type A domains of human von Willebrand factor and their relevance to von Willebrand's disease.
Jenkins PV et al.
Blood, 1998