| STAŇO KOZUBÍK, Kateřina, Jakub TRIZULJAK, Michaela PEŠOVÁ, Karol PÁL, Kamila RÉBLOVÁ, Lenka RADOVÁ, Šárka POSPÍŠILOVÁ and Michael DOUBEK. A novel germline mutation in GP1BA gene in family with hereditary macrothrombocytopenia. Online. In 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG). 2019. ISSN 1018-4813. [citováno 2024-04-23] |
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@proceedings{1641117,
author = {Staňo Kozubík, Kateřina and Trizuljak, Jakub and Pešová, Michaela and Pál, Karol and Réblová, Kamila and Radová, Lenka and Pospíšilová, Šárka and Doubek, Michael},
booktitle = {51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG)},
keywords = {germline mutation; GP1BA},
language = {eng},
title = {A novel germline mutation in GP1BA gene in family with hereditary macrothrombocytopenia},
year = {2019}
}
TY - CONF
ID - 1641117
AU - Staňo Kozubík, Kateřina - Trizuljak, Jakub - Pešová, Michaela - Pál, Karol - Réblová, Kamila - Radová, Lenka - Pospíšilová, Šárka - Doubek, Michael
PY - 2019
TI - A novel germline mutation in GP1BA gene in family with hereditary macrothrombocytopenia
KW - germline mutation
KW - GP1BA
N2 - Hereditary thrombocytopenias are a rare and heterogeneous group of disorders, associated with approximately 30 causal genes involved in the process of megakaryopoesis and thrombopoesis. Pathological mutations lead to disruption of these processes and origin of thrombocytopenia.
ER -
STAŇO KOZUBÍK, Kateřina, Jakub TRIZULJAK, Michaela PEŠOVÁ, Karol PÁL, Kamila RÉBLOVÁ, Lenka RADOVÁ, Šárka POSPÍŠILOVÁ and Michael DOUBEK. A novel germline mutation in GP1BA gene in family with hereditary macrothrombocytopenia. Online. In \textit{51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG)}. 2019. ISSN~1018-4813. [citováno 2024-04-23]
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