Wordt geladen...
Intronic deletions in the SLC34A3 gene: A cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare metabolic disorder, characterized by hypophosphatemia, variable degrees of rickets/osteomalacia, and hypercalciuria secondary to increased serum 1,25-dihydroxyvitamin D [1,25(OH)(2)D] levels. HHRH is caused by mutations in the...
Bewaard in:
| Hoofdauteurs: | , , , , , |
|---|---|
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
2013
|
| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3903128/ https://ncbi.nlm.nih.gov/pubmed/24176905 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bone.2013.10.018 |
| Tags: |
Voeg label toe
Geen labels, Wees de eerste die dit record labelt!
|