Characterization of copy-number variants in a large cohort of patients with von Willebrand disease reveals a relationship between disrupted regions and disease type

Genetic analysis for von Willebrand disease (VWD) commonly utilizes DNA sequencing to identify variants in the von Willebrand factor (VWF) gene; however, this technique cannot always detect copy-number variants (CNVs). Additional mapping of CNVs in patients with VWD is needed. This study aimed to ch...

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Veröffentlicht in:	Research and practice in thrombosis and haemostasis 2023-10, Vol.7 (7), p.102232-102232, Article 102232
Hauptverfasser:	Sadler, Brooke, Christopherson, Pamela A., Perry, Crystal L., Bellissimo, Daniel B., Haberichter, Sandra L., Haller, Gabe, Antunes, Lilian, Flood, Veronica H., Di Paola, Jorge, Montgomery, Robert R.
Format:	Artikel
Sprache:	eng
Schlagworte:	bleeding score comparative genomic hybridization copy number variants ristocetin cofactor von Willebrand disease von Willebrand factor
Online-Zugang:	Volltext
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