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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Publicado no:Bone Res
Main Authors: Sun, Lihao, Zhao, Lin, Du, Lianjun, Zhang, Peipei, Zhang, Minjia, Li, Min, Liu, Tingting, Ye, Lei, Tao, Bei, Zhao, Hongyan, Liu, Jianmin, Ding, Xiaoyi
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
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Article
Acesso em linha: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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