Article
The p.P1127S pathogenic variant lowers von Willebrand factor levels through higher affinity for the macrophagic scavenger receptor LRP1: Clinical phenotype and pathogenic mechanisms.
Journal of thrombosis and haemostasis : JTH - 1 Aug 2022
Sacco Monica, Lancellotti Stefano, Branchini Alessio, Tardugno Maira, Testa Maria Francesca, Lunghi Barbara, Bernardi Francesco, Pinotti Mirko, Giusti Betti, Castaman Giancarlo, De Cristofaro Raimondo
Abstract excerpt
BACKGROUND: The index case is a 21-year-old Italian woman with a mild hemorrhagic syndrome and von Willebrand factor antigen (VWF:Ag) = 34.3 U/dl, VWF recombinant glycoprotein Ib (VWF:GpIbR) = 32.8 U/dl, and factor VIII (FVIII) = 55.3 IU/dl. AIMS: The aim of this study is to characterize from a genetic and biochemical standpoint this low VWF phenotype. METHODS: Coagulation and biochemical methods were used to...
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