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...

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Detalles Bibliográficos
Autores principales: Bieri, Cornelia, Daryadel, Arezoo, Bettoni, Carla, Pastor-Arroyo, Eva-Maria, Schnitzbauer, Udo, Hernando, Nati, Wagner, Carsten A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
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

Internet

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

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