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Article

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

British journal of haematology - 1 Dec 1998

Hilbert L, Gaucher C, Abgrall J F, Parquet A, Trzeciak C, Mazurier C

Abstract excerpt

We report the identification in five patients (three families) affected with type 2B von Willebrand disease (VWD) of three heterozygous nucleotide substitutions at the codon for arginine 543, 545 and 578 of the mature von Willebrand factor (VWF) subunit resulting in a glutamine, proline and leuci...

Topics

Adolescent
Adult
Amino Acid Substitution
Female
Hemorrhagic Disorders
Heterozygote
Humans
Male
Middle Aged
Mutation
Pedigree
Phenotype
von Willebrand Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

von Willebrand Factor

Source

Identifiers

PMID: 9858249
DOI: 10.1046/j.1365-2141.1998.01040.x

Genes

VWF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9858249-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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Click a neighbor to travelStep 1 · 12 closest

Identification of new type 2B von Willebrand disease mutations: Arg543Gln, Arg545Pro and Arg578Leu.PMID 9858249Read ↗

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 ↗

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 ↗

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

Characterization of recombinant von Willebrand factor corresponding to mutations in type IIA and type IIB 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 ↗

Functional analysis of a type IIB von Willebrand disease missense mutation: increased binding of large von Willebrand factor multimers to platelets.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 ↗

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 ↗

Discrepancy between IIA phenotype and IIB genotype in a patient with a variant of 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 ↗

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