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A Novel PHEX Mutation in Japanese Patients with X-Linked Hypophosphatemic Rickets
X-linked hypophosphatemic rickets (XLH) is a dominant inherited disorder characterized by renal phosphate wasting, aberrant vitamin D metabolism, and abnormal bone mineralization. Inactivating mutations in the gene encoding phosphate-regulating gene with homologies to endopeptidases on the X chromos...
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| Publicat a: | Case Rep Genet |
|---|---|
| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Hindawi Publishing Corporation
2015
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4377384/ https://ncbi.nlm.nih.gov/pubmed/25861491 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2015/301264 |
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