Four novel mutations in the ALPL gene in Chinese patients with odonto, childhood, and adult hypophosphatasia

Hypophosphatasia (HPP) is a rare inherited disorder characterized by defective bone and/or dental mineralization, and decreased serum alkaline phosphatase (ALP) activity. ALPL, the only gene related with HPP, encodes tissue non-specific ALP (TNSALP). Few studies were carried out in ALPL gene mutatio...

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Detalles Bibliográficos
Autores principales: Xu, Lijun, Pang, Qianqian, Jiang, Yan, Wang, Ou, Li, Mei, Xing, Xiaoping, Xia, Weibo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Portland Press Ltd. 2018
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6131208/
https://www.ncbi.nlm.nih.gov/pubmed/29724887
http://dx.doi.org/10.1042/BSR20171377

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6131208/
https://www.ncbi.nlm.nih.gov/pubmed/29724887
http://dx.doi.org/10.1042/BSR20171377

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