A <i>GP1BA</i> Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome

A <i>GP1BA</i> Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome

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 Will...

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Bibliographic Details
Main Authors: Magdalena Skalníková, Kateřina Staňo Kozubík, Jakub Trizuljak, Zuzana Vrzalová, Lenka Radová, Kamila Réblová, Radka Holbová, Terézia Kurucová, Hana Svozilová, Jiří Štika, Ivona Blaháková, Barbara Dvořáčková, Marie Prudková, Olga Stehlíková, Michal Šmída, Leoš Křen, Petr Smejkal, Šárka Pospíšilová, Michael Doubek
Format: Article
Language:English
Published: MDPI AG 2022-01-01
Series:International Journal of Molecular Sciences
Subjects:
Bernard-Soulier syndrome
monoallelic
autosomal dominant
<i>GP1BA</i>
macrothrombocytopenia
Online Access:https://www.mdpi.com/1422-0067/23/2/885

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https://www.mdpi.com/1422-0067/23/2/885

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