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Article

Variant mapping using mass spectrometry-based proteotyping as a diagnostic tool in von Willebrand disease.

Journal of thrombosis and haemostasis : JTH - 1 Jul 2024

Kreft Iris C, van Duijl Tirsa T, van Kwawegen Calvin, Atiq Ferdows, Phan Winny, Schuller Margo B P, Boon-Spijker Mariëtte, van der Zwaan Carmen, Meijer Alexander B, Hoogendijk Arie J, Bierings Ruben, Eikenboom Jeroen C J, Leebeek Frank W G, van den Biggelaar Maartje

Abstract excerpt

BACKGROUND: von Willebrand disease (VWD) is the most common inherited bleeding disorder, characterized by either partial or complete von Willebrand factor (VWF) deficiency or by the occurrence of VWF proteoforms of altered functionality. The gene encoding VWF is highly polymorphic, giving rise to a variety of proteoforms with varying plasma concentrations and clinical significance. OBJECTIVES: To address this...

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PMID: 38679335
DOI: 10.1016/j.jtha.2024.04.011

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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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