Molecular genetic and biochemical analyses of FGF23 mutations in familial tumoral calcinosis

Fibroblast growth factor 23 (FGF23) is a hormone required for normal renal phosphate reabsorption. FGF23 gain-of-function mutations result in autosomal dominant hypophosphatemic rickets (ADHR), and FGF23 loss-of-function mutations cause familial hyperphosphatemic tumoral calcinosis (TC). In this stu...

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Main Authors: Garringer, Holly J., Malekpour, Mahdi, Esteghamat, Fatemehsadat, Mortazavi, Seyed M. J., Davis, Siobhan I., Farrow, Emily G., Yu, Xijie, Arking, Dan E., Dietz, Harry C., White, Kenneth E.
Formato: Artigo
Idioma:Inglês
Publicado em: American Physiological Society 2008
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2575904/
https://ncbi.nlm.nih.gov/pubmed/18682534
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1152/ajpendo.90456.2008
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