A novel c.2179T>C mutation blocked the intracellular transport of PHEX protein and caused X‐linked hypophosphatemic rickets in a Chinese family

BACKGROUND: X‐linked hypophosphatemic rickets (XLH) is a heterogeneous genetic phosphate wasting disorder that occupies the majority of inheritable hypophosphatemic rickets (HR). XLH is caused by loss‐of‐function mutations in the phosphate‐regulating endopeptidase gene (PHEX) located on the X chromo...

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Detalles Bibliográficos
Autores principales: Li, Baowei, Wang, Xiong, Hao, Xiaodan, Liu, Yanran, Wang, Yin, Shan, Chan, Ao, Xiang, Liu, Ying, Bao, HongChu, Li, Peifeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434742/
https://www.ncbi.nlm.nih.gov/pubmed/32511895
http://dx.doi.org/10.1002/mgg3.1262

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