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Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia
Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR) is a rare disorder, caused by bialellic mutations of the vitamin D receptor (VDR) gene, sometimes associated with alopecia. The aim of this study is to elucidate the mechanism of functional disruption of a novel mutation, detected in a pat...
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| Publicado no: | Sci Rep |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group UK
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5505967/ https://ncbi.nlm.nih.gov/pubmed/28698609 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-05081-x |
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