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Article

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

Blood - 15 Mar 1994

Hilbert L, Gaucher C, de Romeuf C, Horellou M H, Vink T, Mazurier C

Abstract excerpt

Type IIB von Willebrand disease is characterized by the selective loss of high molecular weight von Willebrand factor (vWF) multimers from plasma and enhanced platelet agglutination of platelet-rich-plasma in the presence of low concentrations of ristocetin. We identified, in two related patients...

Topics

Aged
Base Sequence
Blood Platelets
Crotalid Venoms
Female
Humans
Molecular Sequence Data
Mutation
Phenotype
Ristocetin
von Willebrand Diseases
von Willebrand Factor

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 8123843

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8123843-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Leu 697-->Val mutation in mature von Willebrand factor is responsible for type IIB von Willebrand disease.PMID 8123843Read ↗

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 ↗

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 ↗

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 ↗

Effects of different amino-acid substitutions in the leucine 694-proline 708 segment of recombinant von Willebrand factor.Semantic proximity Read ↗

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

Identification of new type 2B von Willebrand disease mutations: Arg543Gln, Arg545Pro and Arg578Leu.Semantic proximity Read ↗

A new mutation, S1285F, within the A1 loop of von Willebrand factor induces a conformational change in A1 loop with abnormal binding to platelet GPIb and botrocetin causing type 2M von Willebrand disease.Semantic proximity Read ↗

Type 2A (IIH) von Willebrand disease is due to mutations that affect von Willebrand factor multimerization.Semantic proximity Read ↗

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

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 ↗

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