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Vitamin D Receptor Mutations in Patients with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets

CONTEXT: Hereditary vitamin D resistant rickets (HVDRR), also known as vitamin D-dependent rickets type II, is an autosomal recessive disorder characterized by the early onset of rickets with hypocalcemia, secondary hyperparathyroidism and hypophosphatemia and is caused by mutations in the vitamin D...

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Bibliografische gegevens
Hoofdauteurs: Malloy, Peter J., Tasic, Velibor, Taha, Doris, Tütüncüler, Filiz, Ying, Goh Siok, Yin, Loke Kah, Wang, Jining, Feldman, David
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2013
Onderwerpen:
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3933290/
https://ncbi.nlm.nih.gov/pubmed/24246681
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2013.10.014
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