Associated Papers
The dominant p.Thr274Pro mutation in the von Willebrand factor propeptide causes the von Willebrand disease type 1 phenotype in two unrelated patients.
Pagliari MT et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2022
Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS.
Baronciani L et al.
Blood Advances, 2021
Type-3 von Willebrand disease in India-Clinical spectrum and molecular profile.
Elayaperumal S et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2018
Highly similar genomic landscapes in monoclonal B-cell lymphocytosis and ultra-stable chronic lymphocytic leukemia with low frequency of driver mutations.
Agathangelidis A et al.
Haematologica, 2018
29449433 (PubMed )
Supplement: 2017.177212.AGATHANGELIDIS_SUPPL.pdf
Expression studies of missense mutations p.D141Y, p.C275S located in the propeptide of von Willebrand factor in patients with type 3 von Willebrand disease.
Baronciani L et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2008
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 characterization of a multiethnic group of 21 patients with type 3 von Willebrand disease.
Baronciani L et al.
Thrombosis and Haemostasis, 2000
Molecular defects in type 3 von Willebrand disease: updated results from 40 multiethnic patients.
Baronciani L et al.
Blood Cells, Molecules & Diseases, 0
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