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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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Detalhes bibliográficos
Publicado no:J Clin Invest
Main Authors: Malloy, P J, Hochberg, Z, Tiosano, D, Pike, J W, Hughes, M R, Feldman, D
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 1990
Assuntos:
Acesso em linha: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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