Article
Mutation of the<i>CYP2R1</i>Vitamin D 25-Hydroxylase in a Saudi Arabian Family with Severe Vitamin D Deficiency
1 Oct 2012
Abstract excerpt
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. RESULTS: Multiple mutations have been identified in VDR and CYP27B1 in patients with rickets, and thus, the roles of...
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