Article
Homozygous SLC2A9 mutations cause severe renal hypouricemia.
Journal of the American Society of Nephrology : JASN - 1 Jan 2010
Dinour Dganit, Gray Nicola K, Campbell Susan, Shu Xinhua, Sawyer Lindsay, Richardson William, Rechavi Gideon, Amariglio Ninette, Ganon Liat, Sela Ben-Ami, Bahat Hilla, Goldman Michael, Weissgarten Joshua, Millar Michael R, Wright Alan F, Holtzman Eliezer J
Abstract excerpt
Hereditary hypouricemia may result from mutations in the renal tubular uric acid transporter URAT1. Whether mutation of other uric acid transporters produces a similar phenotype is unknown. We studied two families who had severe hereditary hypouricemia and did not have a URAT1 defect. We performed a genome-wide homozygosity screen and linkage analysis and identified the candidate gene SLC2A9, which encodes the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.