A compound heterozygous mutation of the alkaline phosphatase ALPL gene causes hypophosphatasia in a Han Chinese family

Hypophosphatasia (HPP) is a rare hereditary systemic disease that is characterized by defective bone and/or dental mineralization, and is caused by mutations in the alkaline phosphatase gene (ALPL). The present study investigated the ALPL mutation in a Chinese Han family with HPP and studied the pat...

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Vydáno v:Exp Ther Med
Hlavní autoři: Huang, Huajie, Wang, Jian, Liang, Yingyin, Wei, Xiaofeng, Guo, Dan, Sun, Hengbiao, Zhang, Xuelian, Xu, Xiangmin, Xiong, Fu
Médium: Artigo
Jazyk:Inglês
Vydáno: D.A. Spandidos 2020
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7571384/
https://ncbi.nlm.nih.gov/pubmed/33093890
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/etm.2020.9281
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