Two Novel PHEX Mutations in Taiwanese Patients with X-Linked Hypophosphatemic Rickets
Two Novel PHEX Mutations in Taiwanese Patients with X-Linked Hypophosphatemic Rickets
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Basel: S. Karger AG
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English
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Basel: S. Karger AG
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Backgrounds: X-linked hypophosphatemic rickets (XLH) is an X-linked dominant disease characterized by renal phosphate wasting, hypophosphatemia, aberrant vitamin D metabolism, and defective bone mineralization. The disease is caused by mutations in the PHEX gene (phosphate-regulating gene with homologies to endopeptidases on the X-chromosome) locat...
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Full title
Two Novel PHEX Mutations in Taiwanese Patients with X-Linked Hypophosphatemic Rickets
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TN_cdi_proquest_journals_274431598
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_274431598
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ISSN
1660-8151
E-ISSN
2235-3186
