The URAT1 R406C mutation detected in all three families is likely to be the founder mutation in Iraqi Jews. Our findings contribute to a better definition of the different types of hereditary renal hypouricemia and suggest that the phenotype of this disorder depends mainly on the degree of inhibition of uric acid transport.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
Nephrology and Hypertension Institute, Sheba Medical Center, Tel-Hashomer and the Sackler School of Medicine, Tel AvivUniversity, Tel Aviv, Israel. dganit.dinour [at] sheba.health.gov.il
Nephrol Dial Transplant. 2011 Jul;26(7):2175-81
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