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An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease.

Thrombosis and haemostasis - 1 Nov 2006

Cumming Anthony, Grundy Pamela, Keeney Stephen, Lester William, Enayat Said, Guilliatt Andrea, Bowen Derrick, Pasi John, Keeling David, Hill Frank, Bolton-Maggs Paula H B, Hay Charles, Collins Peter

Abstract excerpt

Forty families diagnosed by UK centres to have type 1 VWD were recruited. Following review, six families were re-diagnosed to have type 2 VWD, one to have a platelet storage pool disorder, and one family was determined to be unaffected. Direct DNA sequencing of the promoter region and all exons a...

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Identifiers

PMID: 17080221

Genes

VWF

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17080221-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease.PMID 17080221Read ↗

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The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study.Semantic proximity Read ↗

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