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URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia.
Claverie-Martin F, Trujillo-Suarez J, Gonzalez-Acosta H, Aparicio C, Justa Roldan ML, Stiburkova B, Ichida K, Martín-Gomez MA, Herrero Goñi M, Carrasco Hidalgo-Barquero M, Iñigo V, Enriquez R, Cordoba-Lanus E, Garcia-Nieto VM; RenalTube Group. Claverie-Martin F, et al. Clin Chim Acta. 2018 Jun;481:83-89. doi: 10.1016/j.cca.2018.02.030. Epub 2018 Feb 24. Clin Chim Acta. 2018. PMID: 29486147
RESULTS: Molecular analysis revealed SLC22A12 mutations in ten of the patients, and SLC2A9 mutations in the other four. A new heterozygous SLC22A12 missense mutation, c.1427C>A (p.A476D), was identified in two affected members of the same family. .. …
RESULTS: Molecular analysis revealed SLC22A12 mutations in ten of the patients, and SLC2A9 mutations in the other four. …
Pathogenic Variants of SLC22A12 (URAT1) and SLC2A9 (GLUT9) in Spanish Patients with Renal Hypouricemia: Founder Effect of SLC2A9 Variant c.374C>T; p.(T125M).
Perdomo-Ramirez A, Cordoba-Lanus E, Trujillo-Frias CJ, Gonzalez-Navasa C, Ramos-Trujillo E, Luis-Yanes MI, Garcia-Nieto V, Claverie-Martin F; RenalTube. Perdomo-Ramirez A, et al. Int J Mol Sci. 2023 May 8;24(9):8455. doi: 10.3390/ijms24098455. Int J Mol Sci. 2023. PMID: 37176161 Free PMC article.
RHUC is caused by inactivating mutations in the SLC22A12 (RHUC type 1) or SLC2A9 (RHUC type 2) genes, which encode urate transporters URAT1 and GLUT9, respectively. ...Our results showed that ten patients carried the SLC22A12 mutation c.1400C&gt …
RHUC is caused by inactivating mutations in the SLC22A12 (RHUC type 1) or SLC2A9 (RHUC type 2) genes, which encode urate transporters …