Article
Rescue of the phenotype of CYP27B1 (1alpha-hydroxylase)-deficient mice.
The Journal of steroid biochemistry and molecular biology - 1 May 2004
Dardenne Olivier, Prud'homme Josée, Glorieux Francis H, St-Arnaud René
Abstract excerpt
The treatment of choice for pseudo Vitamin D deficiency rickets (PDDR), caused by mutations in the 25-hydroxyvitamin D-1alpha-hydroxylase (CYP27B1; 1alpha-OHase) gene, is replacement therapy with 1,25(OH)(2)D(3). We have previously engineered an animal model of PDDR by targeted inactivation of the 1alpha-OHase gene in mice (Endocrinology 142 (2001) 3135). Replacement therapy was performed in this model, and...
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