A novel missense mutation in the ALPL gene causes dysfunction of the protein

Hypophosphatasia (HP) is a rare genetic disease caused by mutation in the alkaline phosphatase, liver/bone/kidney (ALPL) gene with highly variable clinical manifestations. Efforts have been made to collect cases with novel mutations and to examine how a missense mutation affects ALPL protein functio...

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Detalles Bibliográficos
Autores principales: Chen, Bin, Li, Lili, Ren, Weitong, Yi, Long, Wang, Yaping, Yan, Fuhua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2017
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5482188/
https://www.ncbi.nlm.nih.gov/pubmed/28586049
http://dx.doi.org/10.3892/mmr.2017.6668

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5482188/
https://www.ncbi.nlm.nih.gov/pubmed/28586049
http://dx.doi.org/10.3892/mmr.2017.6668

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