RT Book, Section
A1 Sperling, Oded
A2 Valle, David L.
A2 Antonarakis, Stylianos
A2 Ballabio, Andrea
A2 Beaudet, Arthur L.
A2 Mitchell, Grant A.
SR Print(0)
ID 1181473809
T1 Hereditary Renal Hypouricemia: Identification of the Gene Defect in Hereditary Renal Hypouricemia
T2 The Online Metabolic and Molecular Bases of Inherited Disease
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9780071459969
LK ommbid.mhmedical.com/content.aspx?aid=1181473809
RD 2024/04/24
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