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
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
A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome.
Trizuljak J et al.
Platelets, 2018
Genotype-phenotype correlation in a cohort of Portuguese patients comprising the entire spectrum of VWD types: impact of NGS.
Fidalgo T et al.
Thrombosis and Haemostasis, 2016
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