Carregant...
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...
Guardat en:
| Publicat a: | Bone |
|---|---|
| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2016
|
| Matèries: | |
| Accés en línia: | 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 |
| Etiquetes: |
Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!
|