Spectrum of the mutations in Bernard-Soulier syndrome.

Savoia, Anna; Kunishima, Shinji; De Rocco, Daniela; Zieger, Barbara; L Rand, Margaret; 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; G Heller, Paula; Karimi, Mehran; L Balduini, Carlo; Pastore, Annalisa; Lanza, Francois

doi:10.1002/humu.22607

Public

Spectrum of the mutations in Bernard-Soulier syndrome.

Shared by NobleBlocks on Sep 1, 2014 • 12:00 AM UTC

Authors:

Anna Savoia

Shinji Kunishima

Daniela De Rocco

Abstract

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 ...

Subject

Bernard-Soulier syndrome

GP1BA

GP1BB

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