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Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor
The rare genetic recessive disease, hereditary vitamin D resistant rickets (HVDRR), is caused by mutations in the vitamin D receptor (VDR) that result in resistance to the active hormone 1,25-dihydroxyvitamin D(3) (1,25-(OH)(2)D(3) or calcitriol). In this study, we examined the VDR from a young boy...
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| Autores principales: | , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2010
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2794978/ https://ncbi.nlm.nih.gov/pubmed/19815438 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2009.09.004 |
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