Function of PHEX mutations p.Glu145* and p.Trp749Arg in families with X-linked hypophosphatemic rickets by the negative regulation mechanism on FGF23 promoter transcription

X-linked hypophosphatemic rickets (XLH) is characterized by increased circulating fibroblast growth factor 23 (FGF23) concentration caused by PHEX (NM_000444.5) mutations. Renal tubular resorption of phosphate is impaired, resulting in rickets and impaired bone mineralization. By phenotypic-genetic...

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Detalles Bibliográficos
Autores principales: Gan, Yu-mian, Zhang, Yan-ping, Ruan, Dan-dan, Huang, Jian-bin, Zhu, Yao-bin, Lin, Xin-fu, Xiao, Xiao-ping, Cheng, Qiong, Geng, Zhen-bo, Liao, Li-sheng, Tang, Fa-qiang, Luo, Jie-wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9163062/
https://www.ncbi.nlm.nih.gov/pubmed/35654784
http://dx.doi.org/10.1038/s41419-022-04969-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9163062/
https://www.ncbi.nlm.nih.gov/pubmed/35654784
http://dx.doi.org/10.1038/s41419-022-04969-5

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