New SLC22A12 (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 SLC22A12 (RHUC type 1) or SLC2A9 (RHUC type 2) genes, encoding urate transporters URAT1 and GLUT9, respectively, that reabsorb urate in the renal proximal tubule. The characteristics of this disorder...

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Detalles Bibliográficos
Autores principales: Perdomo-Ramírez, Ana, Ramos-Trujillo, Elena, Claverie-Martín, Félix
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10530539/
https://www.ncbi.nlm.nih.gov/pubmed/37761963
http://dx.doi.org/10.3390/genes14091823

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10530539/
https://www.ncbi.nlm.nih.gov/pubmed/37761963
http://dx.doi.org/10.3390/genes14091823

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