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.
MeSH terms
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Humans
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Hypophosphatemia, Familial / drug therapy*
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Hypophosphatemia, Familial / genetics
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Mutation
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Protein Binding
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Receptors, Calcitriol / agonists
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Receptors, Calcitriol / chemistry
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Vitamin D / analogs & derivatives*
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Vitamin D / therapeutic use
Substances
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Receptors, Calcitriol
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Vitamin D