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Seven novel and six de novo PHEX gene mutations in patients with hypophosphatemic rickets

Inactivating mutations in phosphate-regulating gene with homologies to endopeptidase on the X chromosome (PHEX) have been identified as a cause of X-linked hypophosphatemic rickets (XLH; OMIM 307800). In the present study, we enrolled 43 patients from 18 unrelated families clinically diagnosed with...

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Detalhes bibliográficos
Publicado no:Int J Mol Med
Main Authors: Li, Shan-Shan, Gu, Jie-Mei, Yu, Wei-Jia, He, Jin-Wei, Fu, Wen-Zhen, Zhang, Zhen-Lin
Formato: Artigo
Idioma:Inglês
Publicado em: D.A. Spandidos 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5117772/
https://ncbi.nlm.nih.gov/pubmed/27840894
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/ijmm.2016.2796
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