Identification of two novel mutations in the GALNT3 gene in a Chinese family with hyperphosphatemic familial tumoral calcinosis

Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare, autosomal recessive genetic disease. This disease is characterized by the progressive calcification of soft tissues leading to symptoms of pressure and hyperphosphatemia but normal concentrations of serum calcium with or without an elev...

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Dettagli Bibliografici
Pubblicato in:Bone Res
Autori principali: Sun, Lihao, Zhao, Lin, Du, Lianjun, Zhang, Peipei, Zhang, Minjia, Li, Min, Liu, Tingting, Ye, Lei, Tao, Bei, Zhao, Hongyan, Liu, Jianmin, Ding, Xiaoyi
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2016
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5100662/
https://ncbi.nlm.nih.gov/pubmed/27867679
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/boneres.2016.38
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