Targeted inactivation of the 25-hydroxyvitamin D(3)-1(alpha)-hydroxylase gene (CYP27B1) creates an animal model of pseudovitamin D-deficiency rickets.

Dardenne, O; Prud'homme, J; Arabian, A; H Glorieux, F; St-Arnaud, R

doi:10.1210/endo.142.7.8281

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Targeted inactivation of the 25-hydroxyvitamin D(3)-1(alpha)-hydroxylase gene (CYP27B1) creates an animal model of pseudovitamin D-deficiency rickets.

Shared by NobleBlocks on Jul 1, 2001 • 12:00 AM UTC

Authors:

O Dardenne

J Prud'homme

A Arabian

Abstract

Pseudovitamin D-deficiency rickets is caused by mutations in the cytochrome P450 enzyme, 25-hydroxyvitamin D(3)-1alpha-hydroxylase (1alpha-OHase). Patients with the disease exhibit growth retardation, rickets, and osteomalacia. Serum biochemistry is characterized by hypocalcemia, secondary hyperpara...

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