Mgr. Kateřina Konečná
Research specialist, Department of Clinical Immunology and Allergology
Total number of publications: 7
2024
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LDLR gene rearrangements in Czech FH patients likely arise from one mutational event
LIPIDS IN HEALTH AND DISEASE, year: 2024, volume: 23, edition: 1, DOI
2023
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Functional analysis of LDLR variants using flow cytometry
Year: 2023, type: Conference abstract
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Functional analysis of LDLR variants using flow cytometry and western blot
Year: 2023, type: Appeared in Conference without Proceedings
2022
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Common rearrangements of the LDLR gene in the Czech population likely arise from one mutational event.
Year: 2022, type: Conference abstract
2021
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Breakpoints of two duplications in the LDL-receptor gene in the Czech Republic
Year: 2021, type: Conference abstract
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Genetika familiární hypercholesterolemie: aktualizovaná kritéria pro interpretaci variant v genu LDLR
Athero Review, year: 2021, volume: 6, edition: 3
2020
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Validní zdroje informací o sekvenčních variantách lidského genomu na příkladu genu pro LDLR.
Year: 2020, type: Conference abstract