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Article

The dominant p.Thr274Pro mutation in the von Willebrand factor propeptide causes the von Willebrand disease type 1 phenotype in two unrelated patients.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Mar 2022

Pagliari Maria Teresa, Baronciani Luciano, Cordiglieri Chiara, Colpani Paola, Cozzi Giovanna, Siboni Simona M, Peyvandi Flora

Abstract excerpt

BACKGROUND: von Willebrand factor propeptide (VWFpp) plays an important role in VWF multimerization and storage. VWFpp mutations have been previously associated with types 1, 3 and 2A/IIC von Willebrand disease (VWD). AIMS: To characterize the novel p.Thr274Pro variant identified in two unrelated type 1 VWD patients. METHODS: Phenotype tests were performed to evaluate patients' plasma and platelets following the...

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Identifiers

PMID: 35064738
DOI: 10.1111/hae.14494
PMCID: PMC9303708

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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