Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase
Author:
Publisher
Proceedings of the National Academy of Sciences
Subject
Multidisciplinary
Reference45 articles.
1. Current Understanding of the Molecular Actions of Vitamin D
2. De-orphanization of Cytochrome P450 2R1
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4. Demonstration of 26-hydroxylation of C27-steroids in human skin fibroblasts, and a deficiency of this activity in cerebrotendinous xanthomatosis.
5. Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis.
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