P13. Abstract Title: Deep Mutational Scan of VWF to Define Mutations that Enhance or Impair Secretion

Von Willebrand Factor (VWF) is a multimeric glycoprotein that recruits platelets to sites of blood vessel injury and serves as a molecular chaperone for coagulation factor VIII (fVIII). Plasma VWF levels are a known risk factor for various thrombotic disorders including VTE, myocardial infarction, and stroke. GWAS studies have identified genetic variants in VWF that contribute to increased and decreased circulating VWF antigen levels. However, it is currently not known why some variants result in high VWF levels while others cause low VWF levels in circulation.

Source: Thrombosis Research - September 30, 2019 Category: Hematology Authors: T. Sparring, C. Kretz, K. Singh, H. Madarati Source Type: research