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Lentiviral gene therapy reverts GPIX expression and phenotype in Bernard-Soulier syndrome type C

12 Jun 2023

Abstract excerpt

Bernard-Soulier syndrome (BSS) is a rare congenital disease characterized by macrothrombocytopenia and frequent bleeding. It is caused by pathogenic variants in three genes ( GP1BA , GP1BB, or GP9 ) that encode for the GPIbα, GPIbβ, and GPIX subunits of the GPIb-V-IX complex, the main platelet surface receptor for von Willebrand factor, being essential for platelet adhesion and aggregation. According to the...

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PMID: 37416759
DOI: 10.1016/j.omtn.2023.06.008

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