TY - CHAP M1 - Book, Section TI - Hereditary Renal Hypouricemia: Identification of the Gene Defect in Hereditary Renal Hypouricemia A1 - Sperling, Oded A2 - Valle, David L. A2 - Antonarakis, Stylianos A2 - Ballabio, Andrea A2 - Beaudet, Arthur L. A2 - Mitchell, Grant A. Y1 - 2019 N1 - 10.1036/ommbid.232 T2 - The Online Metabolic and Molecular Bases of Inherited Disease AB - A major breakthrough in our understanding of the etiology of hereditary renal hypouricemia (HRH) occurred recently owing to identification of the renal urate transporter hURAT1 and demonstration that loss-of-function mutational alterations in the gene SLC22A12 coding for this transporter are associated with HRH.1 These findings have major implications for our understanding of renal urate handling in humans and of the etiology of HRH.2 SN - PB - McGraw-Hill Education CY - New York, NY M3 - doi: 10.1036/ommbid.232 Y2 - 2024/10/13 UR - ommbid.mhmedical.com/content.aspx?aid=1181473809 ER -