Homozygous SLC2A9 Mutations Cause Severe Renal Hypouricemia

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...

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Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado: American Society of Nephrology 2010
Assuntos:
Basic Research
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2799278/
https://ncbi.nlm.nih.gov/pubmed/19926891
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2009040406
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