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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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Autors principals: Malloy, Peter J., Tasic, Velibor, Taha, Doris, Tütüncüler, Filiz, Ying, Goh Siok, Yin, Loke Kah, Wang, Jining, Feldman, David
Format: Artigo
Idioma:Inglês
Publicat: 2013
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Accés en línia: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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