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Clinical utility of panel-based genetic sequencing for von Willebrand disease

Background: von Willebrand disease (VWD) is the most prevalent inherited bleeding disorder with a wide spectrum of causative variants. Next-generation sequencing analyzes the entire VWF gene and provides concomitant assessment of other genes, allowing differentiation between genocopies. Objectives:...

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Principais autores: Radha Ramanan, Christine Van Laer, Sarissa Baert, Cyrielle Kint, Chris Van Geet, Quentin Van Thillo, Peter Verhamme, Thomas Vanassche, James D. McFadyen, Andrew C. Perkins, Huyen A. Tran, Veerle Labarque, Kathleen Freson
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2025-02-01
Serier:Research and Practice in Thrombosis and Haemostasis
Fag:
genotype
high-throughput nucleotide sequencing
phenotype
von Willebrand diseases
Online adgang:http://www.sciencedirect.com/science/article/pii/S2475037925000548
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