DSpace Angular :: Browsing by Author "Malloy, PJ"

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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
(2004) Malloy, PJ; Xu, R; Cattani, A; Reyes, ML; Feldman, D
A young Chilean boy with severe rickets was found to have hereditary vitamin D-resistant rickets without alopecia. He had a unique insertion/substitution mutation in the ligand-binding domain of the vitamin D receptor. The in-frame mutation disrupted ligand binding and co-activator binding and resulted in 1,25(OH)(2)D-3 resistance.