Detailed Information on Publication Record
2019
A novel germline mutation in GP1BA gene in family with hereditary macrothrombocytopenia
STAŇO KOZUBÍK, Kateřina, Jakub TRIZULJAK, Michaela PEŠOVÁ, Karol PÁL, Kamila RÉBLOVÁ et. al.Basic information
Original name
A novel germline mutation in GP1BA gene in family with hereditary macrothrombocytopenia
Authors
STAŇO KOZUBÍK, Kateřina (203 Czech Republic, belonging to the institution), Jakub TRIZULJAK (703 Slovakia, belonging to the institution), Michaela PEŠOVÁ (203 Czech Republic, belonging to the institution), Karol PÁL (703 Slovakia, belonging to the institution), Kamila RÉBLOVÁ (203 Czech Republic, belonging to the institution), Lenka RADOVÁ (203 Czech Republic, belonging to the institution), Šárka POSPÍŠILOVÁ (203 Czech Republic, guarantor, belonging to the institution) and Michael DOUBEK (203 Czech Republic, belonging to the institution)
Edition
51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), 2019
Other information
Language
English
Type of outcome
Konferenční abstrakt
Field of Study
10608 Biochemistry and molecular biology
Country of publisher
United Kingdom of Great Britain and Northern Ireland
Confidentiality degree
není předmětem státního či obchodního tajemství
Impact factor
Impact factor: 3.657
RIV identification code
RIV/00216224:14740/19:00108613
Organization unit
Central European Institute of Technology
ISSN
UT WoS
000489313101205
Keywords in English
germline mutation; GP1BA
Tags
Tags
International impact
Změněno: 31/3/2020 15:00, Mgr. Pavla Foltynová, Ph.D.
Abstract
V originále
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.
Links
| NV16-29447A, research and development project |
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