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Mutation of the CYP2R1 Vitamin D 25-Hydroxylase in a Saudi Arabian Family with Severe Vitamin D Deficiency

CONTEXT: Inherited forms of vitamin D deficiency are rare causes of rickets and to date have been traced to mutations in three genes, VDR, encoding the 1α,25-dihydroxyvitamin D receptor, CYP27B1, encoding the vitamin D 1α-hydroxylase, and CYP2R1, encoding a microsomal vitamin D 25-hydroxylase. RESUL...

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Bibliografske podrobnosti
Main Authors: Al Mutair, Angham N., Nasrat, Ghada H., Russell, David W.
Format: Artigo
Jezik:Inglês
Izdano: Endocrine Society 2012
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3462929/
https://ncbi.nlm.nih.gov/pubmed/22855339
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2012-1340
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