Article
Novel mutations in the 1alpha-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophages.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 May 1999
Smith S J, Rucka A K, Berry J L, Davies M, Mylchreest S, Paterson C R, Heath D A, Tassabehji M, Read A P, Mee A P, Mawer E B
Abstract excerpt
Pseudovitamin D-defiency rickets (PDDR) is an autosomal recessive disorder characterized by hypocalcemia, rickets (which are resistant to treatment with vitamin D), and low or undetectable serum levels of 1,25-dihydroxyvitamin D (1,25(OH)2D). The symptoms are corrected with 1,25(OH)2D treatment, and the disease is now believed to result from a defect in the cytochrome P450 component (P450c1; CYP27B1) of the renal...
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