Article
Spectrum of the mutations in Bernard-Soulier syndrome.
Human mutation - 1 Sept 2014
Savoia Anna, Kunishima Shinji, De Rocco Daniela, Zieger Barbara, Rand Margaret L, Pujol-Moix Nuria, Caliskan Umran, Tokgoz Huseyin, Pecci Alessandro, Noris Patrizia, Srivastava Alok, Ward Christopher, Morel-Kopp Marie-Christine, Alessi Marie-Christine, Bellucci Sylvia, Beurrier Philippe, de Maistre Emmanuel, Favier Rémi, Hézard Nathalie, Hurtaud-Roux Marie-Françoise, Latger-Cannard Véronique, Lavenu-Bombled Cécile, Proulle Valérie, Meunier Sandrine, Négrier Claude, Nurden Alan, Randrianaivo Hanitra, Fabris Fabrizio, Platokouki Helen, Rosenberg Nurit, HadjKacem Basma, Heller Paula G, Karimi Mehran, Balduini Carlo L, Pastore Annalisa, Lanza Francois
Abstract excerpt
Bernard-Soulier syndrome (BSS) is a rare autosomal recessive bleeding disorder characterized by defects of the GPIb-IX-V complex, a platelet receptor for von Willebrand factor (VWF). Most of the mutations identified in the genes encoding for the GP1BA (GPIbα), GP1BB (GPIbβ), and GP9 (GPIX) subunits prevent expression of the complex at the platelet membrane or more rarely its interaction with VWF. As a...
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