A novel germline mutation in GP1BA gene in family with hereditary macrothrombocytopenia

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Authors	STAŇO KOZUBÍK Kateřina TRIZULJAK Jakub PEŠOVÁ Michaela PÁL Karol RÉBLOVÁ Kamila RADOVÁ Lenka POSPÍŠILOVÁ Šárka DOUBEK Michael
Year of publication	2019
Type	Conference abstract
MU Faculty or unit	Central European Institute of Technology
Citation
Description	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.
Related projects:	Vyhledávání mutací predisponujících k familiárním hematologickým a onkologickým onemocněním