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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Main Authors: Malloy, Peter J., Tasic, Velibor, Taha, Doris, Tütüncüler, Filiz, Ying, Goh Siok, Yin, Loke Kah, Wang, Jining, Feldman, David
Formato: Artigo
Idioma:Inglês
Publicado: 2013
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Article
Acceso en liña: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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