The p.P1127S pathogenic variant lowers von Willebrand factor levels through higher affinity for the macrophagic scavenger receptor LRP1: Clinical phenotype and pathogenic mechanisms.
Monica SaccoStefano LancellottiAlessio BranchiniMaira TardugnoMaria Francesca TestaBarbara LunghiFrancesco BernardiMirko PinottiBetti GiustiGiancarlo CastamanRaimondo De CristofaroPublished in: Journal of thrombosis and haemostasis : JTH (2022)
The p.P1127S variant may cause a low VWF phenotype, stemming from an increased VWF affinity for the scavenger receptor LRP1 and, consequently, an accelerated clearance of VWF.
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