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Vitamin D and Diseases of Mineral Homeostasis: A Cyp24a1 R396W Humanized Preclinical Model of Infantile Hypercalcemia Type 1

Infantile hypercalcemia type 1 (HCINF1), previously known as idiopathic infantile hypercalcemia, is caused by mutations in the 25-hydroxyvitamin D 24-hydroxylase gene, CYP24A1. The R396W loss-of-function mutation in CYP24A1 is the second most frequent mutated allele observed in affected HCINF1 patie...

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Detalles Bibliográficos
Autores principales:	St-Arnaud, René, Arabian, Alice, Kavame, Dila, Kaufmann, Martin, Jones, Glenville
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9370611/ https://www.ncbi.nlm.nih.gov/pubmed/35956396 http://dx.doi.org/10.3390/nu14153221

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