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Article

Type IIB von Willebrand's disease: gene mutations and clinical presentation in nine families from Denmark, Germany and Sweden.

British journal of haematology - 1 Sept 1992

Donnér M, Kristoffersson A C, Lenk H, Scheibel E, Dahlbäck B, Nilsson I M, Holmberg L

Abstract excerpt

Type IIB of von Willebrand's disease (vWD) is a variant in which the structurally abnormal von Willebrand factor (vWF) shows an increased affinity for the platelet vWF receptor, glycoprotein Ib (GPIb). This may sometimes give rise to platelet aggregation and thrombocytopenia in vivo. In 20 patients from nine unrelated families with type IIB vWD from Denmark, Germany and Sweden we studied the molecular defect by...

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Identifiers

PMID: 1419803
DOI: 10.1111/j.1365-2141.1992.tb04594.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Research trail→

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Type IIB von Willebrand's disease: gene mutations and clinical presentation in nine families from Denmark, Germany and Sweden.PMID 1419803Read ↗

Molecular study of von Willebrand disease: identification of potential mutations in patients with type IIA and type IIB.Semantic proximity Read ↗

New mutations in exon 28 of the von Willebrand factor gene detected in patients with different types of von Willebrand's disease.Semantic proximity Read ↗

Type IIB mutation His-505-->Asp implicates a new segment in the control of von Willebrand factor binding to platelet glycoprotein Ib.Semantic proximity Read ↗

Type 2B von Willebrand's disease in thirteen individuals from five unrelated Australian families: phenotype and genotype correlations.Semantic proximity Read ↗

An Arg545----Cys545 substitution mutation of the von Willebrand factor in type IIB von Willebrand's disease.Semantic proximity Read ↗

Type 2M:Milwaukee-1 von Willebrand disease: an in-frame deletion in the Cys509-Cys695 loop of the von Willebrand factor A1 domain causes deficient binding of von Willebrand factor to platelets.Semantic proximity Read ↗

[From gene to disease; from mutations in the Von Willebrand factor gene to hemorrhagic diathesis and thrombocytopenia].Semantic proximity Read ↗

The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative GpIb binding domain.Semantic proximity Read ↗

Molecular basis of von Willebrand disease type IIB. Candidate mutations cluster in one disulfide loop between proposed platelet glycoprotein Ib binding sequences.Semantic proximity Read ↗

A type 2b von Willebrand disease mutation (Ile546-->Val) associated with an unusual phenotype.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Discrepancy between IIA phenotype and IIB genotype in a patient with a variant of von Willebrand disease.Semantic proximity Read ↗

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