A novel germline mutation in GP1BA gene in family with hereditary macrothrombocytopenia
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14740%2F19%3A00108613" target="_blank" >RIV/00216224:14740/19:00108613 - isvavai.cz</a>
Result on the web
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DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
A novel germline mutation in GP1BA gene in family with hereditary macrothrombocytopenia
Original language 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.
Czech name
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Czech description
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Classification
Type
O - Miscellaneous
CEP classification
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OECD FORD branch
10608 - Biochemistry and molecular biology
Result continuities
Project
<a href="/en/project/NV16-29447A" target="_blank" >NV16-29447A: Searching for mutations predisposing to familial hematologic and oncologic diseases</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2019
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů