von Willebrand factor antigen levels are associated with burden of rare nonsynonymous variants in the VWF gene

Approximately 35% of patients with type 1 von Willebrand disease (VWD) do not have a known pathogenic variant in the von Willebrand factor (VWF) gene. We aimed to understand the impact of VWF coding variants on VWD risk and VWF antigen (VWF:Ag) levels, studying 527 patients with low VWF and VWD and...

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Detalles Bibliográficos
Autores principales: Sadler, Brooke, Christopherson, Pamela A., Haller, Gabe, Montgomery, Robert R., Di Paola, Jorge
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society of Hematology 2021
Materias:
Thrombosis and Hemostasis
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8351900/
https://www.ncbi.nlm.nih.gov/pubmed/33556167
http://dx.doi.org/10.1182/blood.2020009999

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8351900/
https://www.ncbi.nlm.nih.gov/pubmed/33556167
http://dx.doi.org/10.1182/blood.2020009999

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