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Article

The "Normandy" variant of von Willebrand disease: characterization of a point mutation in the von Willebrand factor gene.

Blood - 1 May 1991

Gaucher C, Jorieux S, Mercier B, Oufkir D, Mazurier C

Abstract excerpt

We previously reported a functional defect of von Willebrand factor (vWF) in a new variant of von Willebrand disease (vWD) tentatively named vWD "Normandy." The present work has attempted to characterize the molecular abnormality of this vWF that fails to bind factor VIII (FVIII). The immunopurif...

Topics

Base Sequence
Blotting, Western
Codon
DNA
Electrophoresis, Polyacrylamide Gel
Female
Homozygote
Humans
Middle Aged
Molecular Weight
Mutation
Peptide Fragments
Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Trypsin

von Willebrand Diseases

von Willebrand Factor

Source

Identifiers

PMID: 2018834

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-2018834-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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The "Normandy" variant of von Willebrand disease: characterization of a point mutation in the von Willebrand factor gene.PMID 2018834Read ↗

Identification of two point mutations in the von Willebrand factor gene of three families with the 'Normandy' variant of von Willebrand disease.Semantic proximity Read ↗

Expression of von Willebrand factor "Normandy": an autosomal mutation that mimics hemophilia A.Semantic proximity Read ↗

The mutation Arg (53)----Trp causes von Willebrand disease Normandy by abolishing binding to factor VIII. Studies with recombinant von Willebrand factor.Semantic proximity Read ↗

Recombinant expression of mutations causing von Willebrand disease type Normandy: characterization of a combined defect of factor VIII binding and multimerization.Semantic proximity Read ↗

Identification of a His54Gln substitution in von Willebrand factor from a patient with defective binding of factor VIII.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 ↗

First identification and expression of a type 2N von Willebrand disease mutation (E1078K) located in exon 25 of von Willebrand factor gene.Semantic proximity Read ↗

An Arg760Cys mutation in the consensus sequence of the von Willebrand factor propeptide cleavage site is responsible for a new von Willebrand disease variant.Semantic proximity Read ↗

Loss of cysteine 584 impairs the storage and release, but not the synthesis of von Willebrand factor.Semantic proximity Read ↗

A novel case of compound heterozygosity with "Normandy"/type I von Willebrand disease (vWD). Direct demonstration of the segregation of one allele with a defective expression at the mRNA level causing type I vWD.Semantic proximity Read ↗

Three distinct candidate point mutations of the von Willebrand factor gene in four patients with type IIA von Willebrand disease.Semantic proximity Read ↗

Substitution of cysteine for phenylalanine 751 in mature von Willebrand factor is a novel candidate mutation in a family with type IIA von Willebrand disease.Semantic proximity Read ↗

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