Vitamin D-Dependent Rickets Type II: Defective Induction of 25-Hydroxyvitamin D3-24-Hydroxylase by 1,25-Dihydroxyvitamin D3 in Cultured Skin Fibroblasts

    George T. Gamblin, Uri Liberman, C. Eil, Robert W. Downs, D A DeGrange, Stephen J. Marx
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    Studysummary This study found that measuring 24-OHase induction by 1,25(OH)2D3 in cultured skin fibroblasts is a sensitive test for detecting genetic defects in the 1,25(OH)2D effector pathway.
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