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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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| Autori principali: | , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2008
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| Soggetti: | |
| Accesso online: | 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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