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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Vydáno v:Proc Natl Acad Sci U S A
Hlavní autoři: Ritchie, H H, Hughes, M R, Thompson, E T, Malloy, P J, Hochberg, Z, Feldman, D, Pike, J W, O'Malley, B W
Médium: Artigo
Jazyk:Inglês
Vydáno: National Academy of Sciences 1989
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC298586/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2557627/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.86.24.9783
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