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Article

Unravelling the spectrum of von Willebrand factor variants in quantitative von Willebrand disease: results from a German cohort study.

Journal of thrombosis and haemostasis : JTH - 1 Nov 2024

Krahforst Alexander, Yadegari Hamideh, Pavlova Anna, Pezeshkpoor Behnaz, Müller Jens, Pötzsch Bernd, Scholz Ute, Richter Heinrich, Trobisch Heiner, Liebscher Karin, Olivieri Martin, Trautmann-Grill Karolin, Knöfler Ralf, Halimeh Susan, Oldenburg Johannes

Abstract excerpt

BACKGROUND: Von Willebrand disease (VWD), the most prevalent hereditary bleeding disorder, results from deficiency of von Willebrand factor (VWF). OBJECTIVES: This large cohort study aims to offer a comprehensive exploration of mutation spectra and laboratory features in quantitative VWF deficiencies, shedding light on genetic underpinnings and genotype-phenotype associations. METHODS: Our cohort consisted of 221...

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PMID: 39002731
DOI: 10.1016/j.jtha.2024.06.026

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VWF

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