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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Detalles Bibliográficos
Autores principales: Li, Shan-Shan, Gu, Jie-Mei, Yu, Wei-Jia, He, Jin-Wei, Fu, Wen-Zhen, Zhang, Zhen-Lin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2016
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5117772/
https://www.ncbi.nlm.nih.gov/pubmed/27840894
http://dx.doi.org/10.3892/ijmm.2016.2796

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5117772/
https://www.ncbi.nlm.nih.gov/pubmed/27840894
http://dx.doi.org/10.3892/ijmm.2016.2796

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