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Late-Onset Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) Due to Mutation of SLC34A3/NPT2c
OBJECTIVE: To identify a genetic basis for markedly reduced bone density and multiple fractures in an adult patient with hypophosphatemia and hypercalciuria. SUBJECTS: A 54-year-old Vietnamese man, his unaffected two daughters and wife. METHODS: We performed biochemical studies and sequenced the SLC...
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| Publié dans: | Bone |
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| Auteurs principaux: | , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
2016
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5367968/ https://ncbi.nlm.nih.gov/pubmed/27939817 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bone.2016.12.001 |
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