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Article

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

Blood - 1 Feb 1994

Ribba A S, Christophe O, Derlon A, Cherel G, Siguret V, Lavergne J M, Girma J P, Meyer D, Pietu G

Abstract excerpt

Type IIA and IIB von Willebrand disease (vWD) result from qualitative abnormalities of von Willebrand factor (vWF) characterized by an absence in plasma of high molecular weight vWF multimers and an abnormal reactivity of vWF towards platelet glycoprotein (GP) Ib, which is decreased in type IIA and increased in type IIB. In this report, we describe the case of a patient having a IIA vWD phenotype associated with...

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PMID: 8298143

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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→

Click a neighbor to travelStep 1 · 12 closest

Discrepancy between IIA phenotype and IIB genotype in a patient with a variant of von Willebrand disease.PMID 8298143Read ↗

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

Characterization of recombinant von Willebrand factor corresponding to mutations in type IIA and type IIB von Willebrand disease.Semantic proximity Read ↗

Type 2M von Willebrand disease: F606I and I662F mutations in the glycoprotein Ib binding domain selectively impair ristocetin- but not botrocetin-mediated binding of von Willebrand factor to platelets.Semantic proximity Read ↗

Recombinant von Willebrand factor Arg578-->Gln. A type IIB von Willebrand disease mutation affects binding to glycoprotein Ib but not to collagen or heparin.Semantic proximity Read ↗

Leu 697-->Val mutation in mature von Willebrand factor is responsible for type IIB von Willebrand disease.Semantic proximity Read ↗

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

Effect of type IIB von Willebrand disease mutation Arg(545)Cys on platelet glycoprotein Ib binding--studies with recombinant von Willebrand factor.Semantic proximity Read ↗

Variability in platelet- and collagen-binding defects in type 2M von Willebrand disease.Semantic proximity Read ↗

Characterization of a novel mutation in the von Willebrand factor propeptide in a distinct subtype of recessive von Willebrand disease.Semantic proximity Read ↗

Characterisation of von Willebrand factor A1 domain mutants I1416N and I1416T: correlation of clinical phenotype with flow-based platelet adhesion.Semantic proximity Read ↗

Identification of a novel point mutation in platelet glycoprotein Ibalpha, Gly to Ser at residue 233, in a Japanese family with platelet-type von Willebrand disease.Semantic proximity Read ↗

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