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SLC22A12
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publication
A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia
2018 |
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
Analysis of hypouricemic patients with respect to the SLC22A12(URAT1) gene
Publication without faculty affiliation
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
Diagnostic tests for primary renal hypouricemia
2011 |
First Faculty of Medicine
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
Prevalence of URAT1 allelic variants in the Roma population
2016 |
First Faculty of Medicine
publication
Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease
2015 |
First Faculty of Medicine
publication
Clinical and Functional Characterization of a Novel URAT1 Dysfunctional Variant in a Pediatric Patient with Renal Hypouricemia
2019 |
First Faculty of Medicine, Faculty of Science
publication
Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis
2013 |
First Faculty of Medicine, Faculty of Science, Third Faculty of Medicine
publication
URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia
2018 |
First Faculty of Medicine
publication
Acute kidney injury in two children caused by renal hypouricaemia type 2
2012 |
First Faculty of Medicine
publication
Renal Hypouricemia 1: Rare Disorder as Common Disease in Eastern Slovakia Roma Population
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
Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia
2011 |
First Faculty of Medicine
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
Purine disorders with hypouricemia
2014 |
First Faculty of Medicine
publication
GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes
2017 |
First Faculty of Medicine
publication
Uromodulin in a Pathway Between Decreased Renal Urate Excretion and Albuminuria
2019 |
First Faculty of Medicine