A unique insertion/substitution in helix H1 of the vitamin D receptor ligand binding domain in a patient with hereditary 1,25-dihydroxyvitamin D-resistant rickets.

@article{Malloy2004AUI,
  title={A unique insertion/substitution in helix H1 of the vitamin D receptor ligand binding domain in a patient with hereditary 1,25-dihydroxyvitamin D-resistant rickets.},
  author={Peter J. Malloy and Rong Xu and Andre{\'i}na Cattani and Mar{\'i}a Loreto Lunar Reyes and David Feldman},
  journal={Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research},
  year={2004},
  volume={19 6},
  pages={1018-24}
}
INTRODUCTION Hereditary vitamin D--resistant rickets (HVDRR) is a genetic disorder caused by mutations in the vitamin D receptor (VDR). In this study, we examined the VDR in a young boy who exhibited the typical clinical features of HVDRR but without alopecia. MATERIALS AND METHODS The patient's VDR was studied using cultured dermal fibroblasts, and the recreated mutant VDR was analyzed in transfected cells. RESULTS The patient's fibroblasts were resistant to 1,25-dihydroxyvitamin D [1,25… CONTINUE READING
11 Citations
0 References
Similar Papers

Citations

Publications citing this paper.
Showing 1-10 of 11 extracted citations

Similar Papers

Loading similar papers…