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...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: American Society of Nephrology 2010
Sujets:
Basic Research
Accès en ligne: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
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires