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Augmenting vitamin D to combat genetic disease
1Department of Chemistry, The Pennsylvania State University, 152 Davey Lab, University Park, PA 16802, USA.
Chemistry & Biology
|December 25, 2002
Abstract:
Vitamin D-resistant rickets is a genetic disease that causes severe bone underdevelopment due to mutations in the vitamin D receptor. Orthogonal analogs of vitamin D were recently identified that correct defects in the ligand binding pocket of a mutant receptor associated with this disease.