This research aims to explore how the pathogenic variant VWF‐Cys2750Phe affects von Willebrand factor functionality.
Analyzed the impact of VWF‐Cys2750Phe on multimerization and secretion of von Willebrand factor.
Utilized molecular techniques to assess the structural integrity of the CK domain.
Conducted biochemical assays to determine secretion levels of VWF.
VWF‐Cys2750Phe significantly impaired the multimerization of von Willebrand factor.
Decreased secretion levels of VWF were observed in cells expressing the variant.
Findings support the classification of this variant as causing type 2A von Willebrand disease.
Abstract
The authors declare no conflicts of interest. The data that support the findings of this study are available from the corresponding author upon request.