Last Posted: Oct 14, 2019
- Contribution of SLC22A12 on hypouricemia and its clinical significance for screening purposes.
Cha Do Hyeon, et al. Scientific reports 2019 10 (1) 14360
- Hereditary xanthinuria is not so rare disorder of purine metabolism.
Sebesta I et al. Nucleosides, nucleotides & nucleic acids 2018 37(6) 324-328
- The effects of URAT1/SLC22A12 nonfunctional variants, R90H and W258X, on serum uric acid levels and gout/hyperuricemia progression.
Sakiyama Masayuki, et al. Scientific reports 2016 0 20148
- 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.
Gabrikova Dana, et al. Urolithiasis 2015 10 (5) 441-5
- 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.
Hurba Olha, et al. PloS one 2014 0 (9) e107902
- Renal hypouricemia
From NCATS Genetic and Rare Diseases Information Center
- Association of four genetic loci with uric acid levels and reduced renal function: the J-SHIPP Suita study.
Tabara Yasuharu, et al. American journal of nephrology 2010 0 (3) 279-86
- A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese.
Iwai Naoharu, et al. Kidney international 2004 9 (3) 935-44
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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