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Homozygous SLC2A9 mutations cause severe renal hypouricemia.
Dinour D, Gray NK, Campbell S, Shu X, Sawyer L, Richardson W, Rechavi G, Amariglio N, Ganon L, Sela BA, Bahat H, Goldman M, Weissgarten J, Millar MR, Wright AF, Holtzman EJ. Dinour D, et al. J Am Soc Nephrol. 2010 Jan;21(1):64-72. doi: 10.1681/ASN.2009040406. Epub 2009 Nov 19. J Am Soc Nephrol. 2010. PMID: 19926891 Free PMC article.
URAT1 mutations cause renal hypouricemia type 1 in Iraqi Jews.
Dinour D, Bahn A, Ganon L, Ron R, Geifman-Holtzman O, Knecht A, Gafter U, Rachamimov R, Sela BA, Burckhardt G, Holtzman EJ. Dinour D, et al. Nephrol Dial Transplant. 2011 Jul;26(7):2175-81. doi: 10.1093/ndt/gfq722. Epub 2010 Dec 9. Nephrol Dial Transplant. 2011. PMID: 21148271
Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2.
Dinour D, Gray NK, Ganon L, Knox AJ, Shalev H, Sela BA, Campbell S, Sawyer L, Shu X, Valsamidou E, Landau D, Wright AF, Holtzman EJ. Dinour D, et al. Nephrol Dial Transplant. 2012 Mar;27(3):1035-41. doi: 10.1093/ndt/gfr419. Epub 2011 Aug 2. Nephrol Dial Transplant. 2012. PMID: 21810765
49 results