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...

Descripción completa

Detalles Bibliográficos
Autores principales: Tamura, Mayuko, Ishizawa, Michiyasu, Isojima, Tsuyoshi, Özen, Samim, Oka, Akira, Makishima, Makoto, Kitanaka, Sachiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5505967/
https://www.ncbi.nlm.nih.gov/pubmed/28698609
http://dx.doi.org/10.1038/s41598-017-05081-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5505967/
https://www.ncbi.nlm.nih.gov/pubmed/28698609
http://dx.doi.org/10.1038/s41598-017-05081-x

Ejemplares similares