Six ALPL gene variants in five children with hypophosphatasia

BACKGROUND: Hypophosphatasia (HPP) is a rare hereditary disorder characterized by defective bone and tooth mineralization caused by mutations in the alkaline phosphatase (ALPL) gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). Here we performed clinical and molecular studies on 5 HPP c...

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Detalles Bibliográficos
Autores principales: Su, Na, Zhu, Min, Cheng, Xinran, Xu, Ke, Kocijan, Roland, Zhang, Huijiao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8184488/
https://www.ncbi.nlm.nih.gov/pubmed/34164522
http://dx.doi.org/10.21037/atm-21-2096

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8184488/
https://www.ncbi.nlm.nih.gov/pubmed/34164522
http://dx.doi.org/10.21037/atm-21-2096

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