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Article

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

Blood - 1 Feb 1992

Jorieux S, Tuley E A, Gaucher C, Mazurier C, Sadler J E

Abstract excerpt

von Willebrand factor (vWF) and factor VIII (FVIII) circulate in plasma as a noncovalently linked protein complex. The FVIII/vWF interaction is required for the stabilization of procoagulant FVIII activity. Recently, we reported a new variant of von Willebrand disease (vWD) tentatively named "Normandy," characterized by plasma vWF that appears to be structurally and functionally normal except that it does not...

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PMID: 1732004

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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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The mutation Arg (53)----Trp causes von Willebrand disease Normandy by abolishing binding to factor VIII. Studies with recombinant von Willebrand factor.PMID 1732004Read ↗

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

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

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 ↗

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 ↗

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 ↗

Substitution of Arg527 and Arg531 in factor VIII associated with mild haemophilia A: characterization in terms of subunit interaction and cofactor function.Semantic proximity Read ↗

A novel von Willebrand disease-causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion.Semantic proximity Read ↗

A novel deletion mutation is recurrent in von Willebrand disease types 1 and 3.Semantic proximity Read ↗

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

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

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

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