The p.P1127S pathogenic variant lowers von Willebrand factor levels through higher affinity for the macrophagic scavenger receptor LRP1: Clinical phenotype and pathogenic mechanisms

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 gene...

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Detalles Bibliográficos
Autores principales: Sacco, Monica, Lancellotti, Stefano, Branchini, Alessio, Tardugno, Maira, Testa, Maria Francesca, Lunghi, Barbara, Bernardi, Francesco, Pinotti, Mirko, Giusti, Betti, Castaman, Giancarlo, De Cristofaro, Raimondo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
HAEMOSTASIS
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9545986/
https://www.ncbi.nlm.nih.gov/pubmed/35596664
http://dx.doi.org/10.1111/jth.15765

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