Functional Analysis of VDR Gene Mutation R343H in A Child with Vitamin D-Resistant Rickets with Alopecia

The functional study of different mutations on vitamin D receptor (VDR) gene causing hereditary vitamin D-resistant rickets (HVDRR) remains limited. This study was to determine the VDR mutation and the mechanisms of this mutation-causing phenotype in a family with HVDRR and alopecia. Phenotype was a...

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Detalles Bibliográficos
Autores principales: Tseng, Min-Hua, Huang, Shih-Ming, Lo, Fu-Sung, Huang, Jing-Long, Cheng, Chih-Jen, Lee, Hwei-Jen, Lin, Shih-Hua
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/PMC5681508/
https://www.ncbi.nlm.nih.gov/pubmed/29127362
http://dx.doi.org/10.1038/s41598-017-15692-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5681508/
https://www.ncbi.nlm.nih.gov/pubmed/29127362
http://dx.doi.org/10.1038/s41598-017-15692-z

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