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...
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Autores principales: | Mayuko Tamura, Michiyasu Ishizawa, Tsuyoshi Isojima, Samim Özen, Akira Oka, Makoto Makishima, Sachiko Kitanaka |
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Formato: | article |
Lenguaje: | EN |
Publicado: |
Nature Portfolio
2017
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Materias: | |
Acceso en línea: | https://doaj.org/article/67b0c95e7a4a40ed9a8df3d6cecab278 |
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