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...

Full description

Saved in:
Bibliographic Details
Published in:Biosci Rep
Main Authors: Xu, Lijun, Pang, Qianqian, Jiang, Yan, Wang, Ou, Li, Mei, Xing, Xiaoping, Xia, Weibo
Format: Artigo
Language:Inglês
Published: Portland Press Ltd. 2018
Subjects:
Research Articles
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6131208/
https://ncbi.nlm.nih.gov/pubmed/29724887
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BSR20171377
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items