Relationship between clinical phenotype and in vitro analysis of 13 NPT2c/SCL34A3 mutants

Biallelic pathogenic variants in the SLC34A3 gene, encoding for the NPT2c cotransporter, cause Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH). However, the associated phenotype is highly variable. In addition, mice deleted for Slc34a3 exhibit a different phenotype compared to humans,...

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Detalles Bibliográficos
Autores principales: Brazier, François, Courbebaisse, Marie, David, Amandine, Bergerat, David, Leroy, Christine, Lindner, Marta, Maruani, Gérard, Saint Jacques, Camille, Letavernier, Emmanuel, Hureaux, Marguerite, Vargas-Poussou, Rosa, Prié, Dominique
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9810644/
https://www.ncbi.nlm.nih.gov/pubmed/36596813
http://dx.doi.org/10.1038/s41598-022-25995-5

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