Publikace
- URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia2018 | 1. lékařská fakulta
- Functional non-synonymous variants of ABCG2 and gout risk2017 | 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
- GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes2017 | 1. lékařská fakulta
- Genetic background of uric acid metabolism in a patient with severe chronic tophaceous gout2016 | 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
- Functional analysis of novel allelic variants in URAT1 and GLUT9 causing renal hypouricemia type 1 and 22016 | 1. lékařská fakulta, Přírodovědecká fakulta
- Novel dysfunctional variant in ABCG2 as a cause of severe tophaceous gout: biochemical, molecular genetics and functional analysis2016 | 1. lékařská fakulta
- Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease2015 | 1. lékařská fakulta
- 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 Gout2014 | 1. lékařská fakulta, Přírodovědecká fakulta
- Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis2013 | 1. lékařská fakulta, 3. lékařská fakulta, Přírodovědecká fakulta
- Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: Biochemical and molecular genetic analysis in two Czech families with xanthinuria type I2012 | 1. lékařská fakulta
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