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PHEX(L222P) Mutation Increases Phex Expression in a New ENU Mouse Model for XLH Disease

Phex(L222P) mouse is a new ENU mouse model for XLH disease due to Leu to Pro amino acid modification at position 222. Phex(L222P) mouse is characterized by growth retardation, hypophosphatemia, hypocalcemia, reduced body bone length, and increased epiphyseal growth plate thickness and femur diameter...

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Detalles Bibliográficos
Autores principales: El Hakam, Carole, Parenté, Alexis, Baraige, Fabienne, Magnol, Laetitia, Forestier, Lionel, Di Meo, Florent, Blanquet, Véronique
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9407253/
https://www.ncbi.nlm.nih.gov/pubmed/36011266
http://dx.doi.org/10.3390/genes13081356