Associated Papers
Platelet-Type von Willebrand Disease: Complex Pathophysiology and Insights on Novel Therapeutic and Diagnostic Strategies.
Fu A et al.
Seminars in Thrombosis and Hemostasis, 2025
Global prevalence of platelet-type von Willebrand disease.
Seidizadeh O et al.
Research and Practice in Thrombosis and Haemostasis, 2025
A new case of platelet-type von Willebrand disease supports the recent findings of gain-of-function GP1BA variants outside the C-terminal disulphide loop enhances affinity for von Willebrand factor.
Monteiro C et al.
British Journal of Haematology, 2023
A p.Arg127Gln variant in GPIbα LRR5 allosterically enhances affinity for VWF: a novel form of platelet-type VWD.
Bury L et al.
Blood Advances, 2022
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Megy K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
34355501 (PubMed )
Supplement: JTH-19-2612-s004.xlsx › ALL
A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome.
Trizuljak J et al.
Platelets, 2018
Gene of the issue: GP1BA gene mutations associated with bleeding.
Othman M et al.
Platelets, 2017
Differential identification of a rare form of platelet-type (pseudo-) von Willebrand disease (VWD) from Type 2B VWD using a simplified ristocetin-induced-platelet-agglutination mixing assay and confirmed by genetic analysis.
Favaloro EJ et al.
British Journal of Haematology, 2007
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