Cargando…
The human pathogenic 91del7 mutation in SLC34A1 has no effect in mineral homeostasis in mice
Kidneys are key regulators of phosphate homeostasis. Biallelic mutations of the renal Na(+)/phosphate cotransporter SLC34A1/NaPi-IIa cause idiopathic infantile hypercalcemia, whereas monoallelic mutations were frequently noted in adults with kidney stones. Genome-wide-association studies identified...
| Autores principales: | , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2022
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9005600/ https://www.ncbi.nlm.nih.gov/pubmed/35414099 http://dx.doi.org/10.1038/s41598-022-10046-w |