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.
PY  - 2019
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
Y2  - 2024/04/18
UR  - ommbid.mhmedical.com/content.aspx?aid=1181473809
ER  -