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urate transporter
Person
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Person
Publication
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Mgr. Jana Mašínová Ph.D.
External person at First Faculty of Medicine
7 publications
Publications
publication
Identification of Two Dysfunctional Variants in the ABCG2 Urate Transporter Associated with Pediatric-Onset of Familial Hyperuricemia and Early-Onset Gout
2021 |
First Faculty of Medicine
publication
Evaluation of the Influence of Genetic Variants ofSLC2A9(GLUT9) andSLC22A12(URAT1) on the Development of Hyperuricemia and Gout
2020 |
First Faculty of Medicine, Faculty of Mathematics and Physics
publication
Functional Characterization of Clinically-Relevant Rare Variants in ABCG2 Identified in a Gout and Hyperuricemia Cohort
2019 |
Faculty of Science, First Faculty of Medicine, Faculty of Mathematics and Physics, Central Library of Charles University
publication
Clinical and Functional Characterization of a Novel URAT1 Dysfunctional Variant in a Pediatric Patient with Renal Hypouricemia
2019 |
Faculty of Science, First Faculty of Medicine
publication
Circulating microRNA alternations in primary hyperuricemia and gout
2021 |
Faculty of Science, First Faculty of Medicine, Faculty of Mathematics and Physics
publication
Renal Hypouricemia 1: Rare Disorder as Common Disease in Eastern Slovakia Roma Population
2021 |
First Faculty of Medicine
publication
Interaction of the p.Q141K Variant of the ABCG2 Gene with Clinical Data and Cytokine Levels in Primary Hyperuricemia and Gout
2019 |
Faculty of Science, First Faculty of Medicine, Faculty of Mathematics and Physics
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