A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome
A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome
About this item
Full title
Author / Creator
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 and Doubek, Michael
Publisher
Switzerland: MDPI AG
Journal title
Language
English
Formats
Publication information
Publisher
Switzerland: MDPI AG
Subjects
More information
Scope and Contents
Contents
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 fa...
Alternative Titles
Full title
A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8777725
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8777725
Other Identifiers
ISSN
1422-0067,1661-6596
E-ISSN
1422-0067
DOI
10.3390/ijms23020885
