Associated Papers
Conformation-specific RNA aptamers for phenotypic distinction between normal von Willebrand factor and type 2B von Willebrand disease.
Machha VR et al.
Nar Molecular Medicine, 2024
The VWF binding aptamer rondoraptivon pegol increases platelet counts and VWF/FVIII in type 2B von Willebrand disease.
Ay C et al.
Blood Advances, 2022
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar
Specific electrostatic interactions between charged amino acid residues regulate binding of von Willebrand factor to blood platelets.
Interlandi G et al.
The Journal of Biological Chemistry, 2017
An update on type 2B von Willebrand disease.
Mikhail S et al.
Expert Review of Hematology, 2014
Genetic testing for von Willebrand disease: the case against.
Favaloro EJ
Journal of Thrombosis and Haemostasis : Jth, 2010
Laboratory testing for von Willebrand disease: toward a mechanism-based classification.
Torres R et al.
Clinics in Laboratory Medicine, 2009
Dominant von Willebrand disease type 2M and 2U are variable expressions of one distinct disease entity caused by loss-of-function mutations in the A1 domain of the von Willebrand factor gene.
Gadisseur A et al.
Acta Haematologica, 2009
Molecular genetics of type 2 von Willebrand disease.
Fressinaud E et al.
International Journal of Hematology, 2002
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
Molecular genetics of von Willebrand disease.
Mazurier C et al.
Annales De Genetique, 1998
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