Large‐scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia

Hypophosphatasia (HPP) is a rare metabolic disorder characterized by low tissue‐nonspecific alkaline phosphatase (TNSALP) typically caused by ALPL gene mutations. HPP is heterogeneous, with clinical presentation correlating with residual TNSALP activity and/or dominant‐negative effects (DNE). We mea...

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Detalles Bibliográficos
Autores principales: del Angel, Guillermo, Reynders, John, Negron, Christopher, Steinbrecher, Thomas, Mornet, Etienne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7317754/
https://www.ncbi.nlm.nih.gov/pubmed/32160374
http://dx.doi.org/10.1002/humu.24010

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7317754/
https://www.ncbi.nlm.nih.gov/pubmed/32160374
http://dx.doi.org/10.1002/humu.24010

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