Article
Absence of SLC22A12 gene mutations in Greek Caucasian patients with primary renal hypouricaemia.
Scandinavian journal of clinical and laboratory investigation - 1 Jan 2007
Tzovaras V, Chatzikyriakidou A, Bairaktari E, Liberopoulos E N, Georgiou I, Elisaf M
Abstract excerpt
OBJECTIVE: Primary renal hypouricaemia is a hereditary clinical disorder characterized by increased renal urate clearance due to isolated renal tubular defect of uric acid transport. There have been only a few studies on primary renal hypouricaemia in Caucasian populations. Defects in the SLC22A12 gene, which encodes the renal urate transporter URAT1, have been reported to be related to the disease pathogenesis....
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