An ochre mutation in the vitamin D receptor gene causes hereditary 1,25-dihydroxyvitamin D3-resistant rickets in three families.

Hereditary 1,25-dihydroxyvitamin D3-resistant rickets is a rare autosomal-recessive disease resulting from target-organ resistance to the action of the active hormonal form of vitamin D. Four affected children from three related families with the classical syndrome of hereditary 1,25-dihydroxyvitami...

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Detalhes bibliográficos
Main Authors: Ritchie, H H, Hughes, M R, Thompson, E T, Malloy, P J, Hochberg, Z, Feldman, D, Pike, J W, O'Malley, B W
Formato: Artigo
Idioma:Inglês
Publicado em: 1989
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC298586/
https://ncbi.nlm.nih.gov/pubmed/2557627
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