The molecular basis of hereditary 1,25-dihydroxyvitamin D3 resistant rickets in seven related families.

Hereditary 1,25-dihydroxyvitamin D3 [1,25(OH)2D3] resistant rickets (HVDRR) is an autosomal recessive disease caused by target organ resistance to the action of 1,25(OH)2D3, the active form of the hormone. The defect in target cells is heterogenous and commonly appears to be a mutation in the gene e...

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Tallennettuna:
Bibliografiset tiedot
Julkaisussa:J Clin Invest
Päätekijät: Malloy, P J, Hochberg, Z, Tiosano, D, Pike, J W, Hughes, M R, Feldman, D
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: American Society for Clinical Investigation 1990
Aiheet:
Research Article
Linkit:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC329846/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2174914/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI114944
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