Article
Lack of mutations in CYP2D6 and CYP27 in patients with apparent deficiency of vitamin D 25-hydroxylase.
Molecular genetics and metabolism - 1 Dec 2003
Lin Chin Jia, Dardis Andrea, Wijesuriya Sujeewa D, Abdullah Mohamed A, Casella Samuel J, Miller Walter L
Abstract excerpt
Activation of vitamin D requires hepatic 25-hydroxylation and renal 1alpha-hydroxylation. Defects in renal P450c1alpha are well-described, but few patients with defective vitamin D 25-hydroxylation are reported. The cytochrome P450 enzymes CYP2D6 and CYP27 are potential 25-hydroxylases. We sequenced both genes in two reported families with hepatic 25-hydroxylase deficiency and found no mutations. 25-Hydroxylation...
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