Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia
Abstract 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...
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2017-07-01
|
| Series: | Scientific Reports |
| Online Access: | https://doi.org/10.1038/s41598-017-05081-x |