Associated Papers
A case of renal hypouricemia due to T217M mutation in SLC22A12 incidentally associated with IgA nephropathy.
Sakurabu Y et al.
Clinical Case Reports, 2024
Genotype and Phenotype of Renal Hypouricemia: A Single-Center Study from China.
Mou L et al.
Molecular Diagnosis & Therapy, 2024
Contribution of Rare Variants of the SLC22A12 Gene to the Missing Heritability of Serum Urate Levels.
Misawa K et al.
Genetics, 2020
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
Cirulli ET et al.
Nature Communications, 2020
31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf
Contribution of SLC22A12 on hypouricemia and its clinical significance for screening purposes.
Cha DH et al.
Scientific Reports, 2019
Amplicon targeted resequencing for SLC2A9 and SLC22A12 identified novel mutations in hypouricemia subjects.
Zhou Z et al.
Molecular Genetics & Genomic Medicine, 2019
Genetic Heterogeneity of SLC22 Family of Transporters in Drug Disposition.
Lozano E et al.
Journal of Personalized Medicine, 2018
Discovery of URAT1 SNPs and association between serum uric acid levels and URAT1.
Cho SK et al.
Bmj Open, 2015
A case of acute renal failure after exercise with renal hypouricemia demonstrated compound heterozygous mutations of uric acid transporter 1.
Ochi A et al.
Clinical and Experimental Nephrology, 2012
Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese.
Ichida K et al.
Clinical Genetics, 2008
Absence of SLC22A12 gene mutations in Greek Caucasian patients with primary renal hypouricaemia.
Tzovaras V et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2007
Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion.
Ichida K et al.
Journal of the American Society of Nephrology : Jasn, 2004
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