A novel PHEX mutation associated with vitamin D-resistant rickets

X-linked hypophosphatemic rickets (XLH) is the most common form of hereditary rickets. Here, we present a case of XLH associated with a novel mutation in a phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX). PCR-direct sequencing revealed a novel PHEX mutation in...

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Bibliografiska uppgifter
I publikationen:Hum Genome Var
Huvudupphovsmän: Sako, Saori, Niida, Yo, Shima, Kosuke Robert, Takeshita, Yumie, Ishii, Kiyo-aki, Takamura, Toshinari
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Publishing Group UK 2019
Ämnen:
Data Report
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6374454/
https://ncbi.nlm.nih.gov/pubmed/30792871
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-019-0040-3
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