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.
2011-06-28
Eng.
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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