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  1. Sep 2024
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The p.P1127S pathogenic variant lowers von Willebrand factor levels through higher affinity for the macrophagic scavenger receptor LRP1: Clinical phenotype and pathogenic mechanisms
    1
    1. krisBussey97 23 Sep 2024

      functional assays

      Chemiluminescence assays (measuring binding capacity)

      VWF-collagen binding assay (CBA)

      Electrophoresis (Western blot)

      Bidirectional direct sequencing of PCR products

      Paternity test

      PCR and restriction assays to detect SNVs

      in vitro expression of recombinant WT and p.P1127S VWF variants in HEK293 cells

      Platelet aggregation studies

      DDAVP test

      Binding assays

      Proteolysis assays

      in silico modeling

      proteolysis assay binding assays paternity test VWF collagen binding activity western blot platelet aggregation studies
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    ncbi.nlm.nih.gov/pmc/articles/PMC9545986/