VWF A3 domain variant multimer [extracellular region]

Stable Identifier
R-HSA-9823594
Type
Set [CandidateSet]
Species
Homo sapiens
Compartment
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
35104900 Novel Likely Pathogenic Variant in the A3 Domain of von Willebrand Factor Leading to a Collagen-Binding Defect

Zieger, B, Glonnegger, H, Boeckelmann, D, Fels, S, Büchsel, M

Hamostaseologie 2022
11583318 Ser968Thr mutation within the A3 domain of von Willebrand factor (VWF) in two related patients leads to a defective binding of VWF to collagen

Obert, B, Lavergne, JM, Ribba, AS, Meyer, D, Loisel, I, Cherel, G, Girma, JP, Juhan-Vague, I

Thromb Haemost 2001
25051961 Analysis of the role of von Willebrand factor, platelet glycoprotein VI-, and α2β1-mediated collagen binding in thrombus formation

Nieswandt, B, Stegner, D, Mewburn, J, Brown, C, Vidal, B, Lillicrap, D, Rydz, N, Shida, Y, Danisment, O, Sponagle, K, Hegadorn, CA, Pruss, CM, Crawford, B

Blood 2014
19687512 Characterization of W1745C and S1783A: 2 novel mutations causing defective collagen binding in the A3 domain of von Willebrand factor

Gill, S, McKinnon, TA, Mellars, G, Sutherland, M, Riddell, AF, Brown, SA, Laffan, MA, Gomez, K, Millar, CM

Blood 2009
20345715 Absent collagen binding in a VWF A3 domain mutant: utility of the VWF:CB in diagnosis of VWD

Montgomery, RR, Christopherson, PA, Friedman, KD, Hoffmann, RG, Flood, VH, Lederman, CA, Wren, JS

J Thromb Haemost 2010
31605304 Identification of a missense mutation (p.Leu1733Pro) in the A3 domain of von Willebrand factor in a family with type 2M von Willebrand disease

Ozaki, S, Matsumoto, M, Shibata, H, Shigekiyo, T, Sekimoto, E, Yagi, H

Int J Hematol 2020
34758185 Von Willebrand disease type 2M: Correlation between genotype and phenotype

Simons, A, Brons, PPT, Blijlevens, NMA, Meijer, D, Nieuwenhuizen, L, Schols, SEM, Krouwel, S, Laros-van Gorkom, BAP, van Heerde, WL, Atiq, F, Leebeek, FWG, Schoormans, SCM, Maas, DPMSM

J Thromb Haemost 2022
Participants
Participates
Disease
Name Identifier Synonyms
blood platelet disease DOID:2218 platelet disorder, Thrombocytopathy
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