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Molecular Evolution of the Tissue-nonspecific Alkaline Phosphatase Allows Prediction and Validation of Missense Mutations Responsible for Hypophosphatasia

ALPL encodes the tissue nonspecific alkaline phosphatase (TNSALP), which removes phosphate groups from various substrates. Its function is essential for bone and tooth mineralization. In humans, ALPL mutations lead to hypophosphatasia, a genetic disorder characterized by defective bone and/or tooth...

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Autors principals: Silvent, Jérémie, Gasse, Barbara, Mornet, Etienne, Sire, Jean-Yves
Format: Artigo
Idioma:Inglês
Publicat: American Society for Biochemistry and Molecular Biology 2014
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4148848/
https://ncbi.nlm.nih.gov/pubmed/25023282
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M114.576843
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