CYP3A4 mutation causes vitamin D-dependent rickets type 3
CYP3A4 mutation causes vitamin D-dependent rickets type 3
About this item
Full title
Author / Creator
Publisher
United States: American Society for Clinical Investigation
Journal title
Language
English
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Publication information
Publisher
United States: American Society for Clinical Investigation
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More information
Scope and Contents
Contents
Genetic forms of vitamin D-dependent rickets (VDDRs) are due to mutations impairing activation of vitamin D or decreasing vitamin D receptor responsiveness. Here we describe two unrelated patients with early-onset rickets, reduced serum levels of the vitamin D metabolites 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D, and deficient responsiveness...
Alternative Titles
Full title
CYP3A4 mutation causes vitamin D-dependent rickets type 3
Authors, Artists and Contributors
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5919884
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5919884
Other Identifiers
ISSN
0021-9738
E-ISSN
1558-8238
DOI
10.1172/JCI98680
