Article
A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome.
International journal of molecular sciences - 14 Jan 2022
Skalníková Magdalena, Staňo Kozubík Kateřina, Trizuljak Jakub, Vrzalová Zuzana, Radová Lenka, Réblová Kamila, Holbová Radka, Kurucová Terézia, Svozilová Hana, Štika Jiří, Blaháková Ivona, Dvořáčková Barbara, Prudková Marie, Stehlíková Olga, Šmída Michal, Křen Leoš, Smejkal Petr, Pospíšilová Šárka, Doubek Michael
Abstract excerpt
Bernard-Soulier syndrome (BSS) is a rare inherited disorder characterized by unusually large platelets, low platelet count, and prolonged bleeding time. BSS is usually inherited in an autosomal recessive (AR) mode of inheritance due to a deficiency of the GPIb-IX-V complex also known as the von Willebrand factor (VWF) receptor. We investigated a family with macrothrombocytopenia, a mild bleeding tendency,...
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