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

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This publication doesn't include Faculty of Medicine. It includes Central European Institute of Technology. Official publication website can be found on muni.cz.

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.
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