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CG variants
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doc. Mgr. Ing. Blanka Stibůrková Ph.D.
Academic staff at First Faculty of Medicine
83 publications
Publications
publication
Functional non-synonymous variants of ABCG2 and gout risk
2017 |
First Faculty of Medicine, Faculty of Physical Education and Sport
publication
GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes
2017 |
First Faculty of Medicine
publication
Genetic background of uric acid metabolism in a patient with severe chronic tophaceous gout
2016 |
First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Functional analysis of novel allelic variants in URAT1 and GLUT9 causing renal hypouricemia type 1 and 2
2016 |
First Faculty of Medicine, Faculty of Science
publication
Novel dysfunctional variant in ABCG2 as a cause of severe tophaceous gout: biochemical, molecular genetics and functional analysis
2016 |
First Faculty of Medicine
publication
Prevalence of URAT1 allelic variants in the Roma population
2016 |
First Faculty of Medicine
publication
High frequency of SLC22A12 variants causing renal hypouricemia 1 in the Czech and Slovak Roma population; simple and rapid detection method by allele-specific polymerase chain reaction
2015 |
First Faculty of Medicine
publication
Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease
2015 |
First Faculty of Medicine
publication
Complex Analysis of Urate Transporters SLC2A9, SLC22A12 and Functional Characterization of Non-Synonymous Allelic Variants of GLUT9 in the Czech Population: No Evidence of Effect on Hyperuricemia and Gout
2014 |
First Faculty of Medicine, Faculty of Science
publication
Metabolic Syndrome, Alcohol Consumption and Genetic Factors Are Associated with Serum Uric Acid Concentration
2014 |
First Faculty of Medicine
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