URAT1 mutations cause renal hypouricemia type 1 in Iraqi Jews.

@article{Dinour2011URAT1MC,
  title={URAT1 mutations cause renal hypouricemia type 1 in Iraqi Jews.},
  author={Dganit Dinour and Andrew Bahn and Liat Ganon and Rotem Ron and Ossie Geifman-Holtzman and Aaron Knecht and Uzi Gafter and Ruth Rachamimov and Ben-ami Sela and Gerhard Burckhardt and Eliezer J. Holtzman},
  journal={Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association},
  year={2011},
  volume={26 7},
  pages={2175-81}
}
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 severe renal hypouricemia in Israeli patients with uric acid transporter GLUT9 (SLC2A9) loss-of-function mutations. Renal hypouricemia in Iraqi Jews has been previously reported, but its molecular basis has… CONTINUE READING