Homozygous SLC2A9 mutations cause severe renal hypouricemia
SLC2A9纯合突变会导致严重的肾性低尿酸血症
期刊:Journal of the American Society of Nephrology
影响因子:9.4
doi:10.1681/ASN.2009040406
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