Mutational Survey of the PHEX Gene in Patients with X-linked Hypophosphatemic Rickets

X-linked hypophosphatemic rickets (XLH) is a dominantly inherited disorder characterized by renal phosphate wasting, aberrant vitamin D metabolism, and abnormal bone mineralization. XLH is caused by inactivating mutations in PHEX (phosphate-regulating gene with homologies to endopeptidases on the X...

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Détails bibliographiques
Auteurs principaux: Ichikawa, Shoji, Traxler, Elizabeth A., Estwick, Selina A., Curry, Leah R., Johnson, Michelle L., Sorenson, Andrea H., Imel, Erik A., Econs, Michael J.
Format: Artigo
Langue:Inglês
Publié: 2008
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2579265/
https://ncbi.nlm.nih.gov/pubmed/18625346
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bone.2008.06.002
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