Article
URAT1 mutations cause renal hypouricemia type 1 in Iraqi Jews.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Jul 2011
Dinour Dganit, Bahn Andrew, Ganon Liat, Ron Rotem, Geifman-Holtzman Ossie, Knecht Aaron, Gafter Uzi, Rachamimov Ruth, Sela Ben-Ami, Burckhardt Gerhard, Holtzman Eliezer J
Abstract excerpt
BACKGROUND: Hereditary renal hypouricemia may be complicated by nephrolithiasis or exercise-induced acute renal failure. Most patients described so far are of Japanese origin and carry the truncating mutation W258X in the uric acid transporter URAT1 encoded by SLC22A12. Recently, we described sev...
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