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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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Bibliografiske detaljer
Udgivet i:Sci Rep
Main Authors: Tamura, Mayuko, Ishizawa, Michiyasu, Isojima, Tsuyoshi, Özen, Samim, Oka, Akira, Makishima, Makoto, Kitanaka, Sachiko
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2017
Fag:
Online adgang: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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