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Article

von Willebrand factor mutation enhancing interaction with platelets in patients with normal multimeric structure.

The Journal of clinical investigation - 1 May 1993

Holmberg L, Dent J A, Schneppenheim R, Budde U, Ware J, Ruggeri Z M

Abstract excerpt

Variant von Willebrand disease designated as type I New York or type Malmö is characterized by enhanced ristocetin-induced platelet agglutination with normal von Willebrand factor multimeric distribution in plasma. We have studied four such patients belonging to three unrelated families and found in all of them a unique cytosine-to-thymine transition changing the codon for Pro503 (CCG) to Leu (CTG). In three...

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Identifiers

PMID: 8486782
DOI: 10.1172/JCI116443
PMCID: PMC288219

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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von Willebrand factor mutation enhancing interaction with platelets in patients with normal multimeric structure.PMID 8486782Read ↗

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Variable content of von Willebrand factor mutant monomer drives the phenotypic variability in a family with von Willebrand disease.Semantic proximity Read ↗

Multiple substitutions in the von Willebrand factor gene that mimic the pseudogene sequence.Semantic proximity Read ↗

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

Expression of the phenotypic abnormality of platelet-type von Willebrand disease in a recombinant glycoprotein Ib alpha fragment.Semantic proximity Read ↗

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