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

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 benign, i...

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Detalles Bibliográficos
Autores principales: Mao, Xiaojian, Liu, Sichi, Lin, Yunting, Chen, Zhen, Shao, Yongxian, Yu, Qiaoli, Liu, Haiying, Lu, Zhikun, Sheng, Huiyin, Lu, Xinshuo, Huang, Yonglan, Liu, Li, Zeng, Chunhua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6876108/
https://www.ncbi.nlm.nih.gov/pubmed/31760938
http://dx.doi.org/10.1186/s12887-019-1800-4

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