Associated Papers
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
Type 2M and Type 2A von Willebrand Disease: Similar but Different.
Favaloro EJ et al.
Seminars in Thrombosis and Hemostasis, 2016
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
Effect of von Willebrand disease type 2B and type 2M mutations on the susceptibility of von Willebrand factor to ADAMTS-13.
Rayes J et al.
Journal of Thrombosis and Haemostasis : Jth, 2007
C1272S: a new candidate mutation in type 2A von Willebrand disease that disrupts the disulfide loop responsible for the interaction of VWF with platelet GP Ib-IX.
Penas N et al.
American Journal of Hematology, 2004
Von Willebrand's disease in the year 2003: towards the complete identification of gene defects for correct diagnosis and treatment.
Castaman G et al.
Haematologica, 2003
Molecular genetics of type 2 von Willebrand disease.
Fressinaud E et al.
International Journal of Hematology, 2002
The molecular biology of von Willebrand disease.
Keeney S et al.
Clinical and Laboratory Haematology, 2001
Type 2B von Willebrand's disease due to Val1316Met mutation. Heterogeneity in the same sibship.
Rendal E et al.
Annals of Hematology, 2001
Molecular genetics of von Willebrand disease.
Mazurier C et al.
Annales De Genetique, 1998
Understanding von Willebrand's disease from gene defects to the patients.
Zhang Z et al.
Journal of Internal Medicine. Supplement, 1997
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