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[A syndrome with a remarkably similar biochemical phenotype, namely, X-linked hypophosphatemic rickets (XLH), also has a circulating factor with properties similar, if not identical, to those of the tumor-derived factor, 'phosphatonin.' The molecular defect in XLH has been shown to be due to a mutant endopeptidase, PHEX, whose substrate might be 'phosphatonin.' Hypophosphatemia and other biochemical abnormalities in TIO are due to excessive production of 'phosphatonin' with normal PHEX function, whereas the biochemical abnormalities in XLH are caused by a mutant PHEX enzyme that fails to process 'phosphatonin.']. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
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