Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review

Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review

Abstract Objective Hypophosphatasia (HPP) is an inherited disorder of defective skeletal mineralization caused by mutations in the ALPL gene that encodes the Tissue Non-specific Alkaline Phosphatase (TNSALP). It is subdivided into six forms depending on the age of onset: perinatal lethal, prenatal b...

Full description

Bibliographic Details
Main Authors: Xiaojian Mao, Sichi Liu, Yunting Lin, Zhen Chen, Yongxian Shao, Qiaoli Yu, Haiying Liu, Zhikun Lu, Huiyin Sheng, Xinshuo Lu, Yonglan Huang, Li Liu, Chunhua Zeng
Format: Article
Language:English
Published: BMC 2019-11-01
Series:BMC Pediatrics
Subjects:
Hypophosphatasia
Alkaline phosphatase
Mutation
Hypomineralization
Online Access:http://link.springer.com/article/10.1186/s12887-019-1800-4

Internet

http://link.springer.com/article/10.1186/s12887-019-1800-4

Similar Items