A GP1BA 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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8777725/
https://www.ncbi.nlm.nih.gov/pubmed/35055070
http://dx.doi.org/10.3390/ijms23020885

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