New <i>SLC22A12</i> (URAT1) Variant Associated with Renal Hypouricemia Identified by Whole-Exome Sequencing Analysis and Bioinformatics Predictions
Renal hypouricemia (RHUC) is a rare hereditary disorder caused by loss-of-function mutations in the <i>SLC22A12</i> (RHUC type 1) or <i>SLC2A9</i> (RHUC type 2) genes, encoding urate transporters URAT1 and GLUT9, respectively, that reabsorb urate in the renal proximal tubule....
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2023-09-01
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| Series: | Genes |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2073-4425/14/9/1823 |