Tryptophan Missense Mutation in the Ligand-Binding Domain of the Vitamin D Receptor Causes Severe Resistance to 1,25-Dihydroxyvitamin D

    September 2002 in “ Journal of Bone and Mineral Research
    T. M. Nguyen, Paola Adiceam, Marie-Laure Kottler, H. Guillozo, Marthe Rizk‐Rabin, Franck Brouillard, P. Lagier, Cassandre Palix, J. M. Garnier, M Garabédian
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    Studysummary This study found that a specific VDR amino acid substitution in children with hereditary vitamin D-resistant rickets disrupts ligand binding and gene activation but does not impair hair follicle development.
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