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Hypophosphatasia: A Unique Disorder of Bone Mineralization
Hypophosphatasia (HPP) is a rare genetic disease characterized by a decrease in the activity of tissue non-specific alkaline phosphatase (TNSALP). TNSALP is encoded by the ALPL gene, which is abundantly expressed in the skeleton, liver, kidney, and developing teeth. HPP exhibits high clinical variab...
Autores principales: | Villa-Suárez, Juan Miguel, García-Fontana, Cristina, Andújar-Vera, Francisco, González-Salvatierra, Sheila, de Haro-Muñoz, Tomás, Contreras-Bolívar, Victoria, García-Fontana, Beatriz, Muñoz-Torres, Manuel |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8122659/ https://www.ncbi.nlm.nih.gov/pubmed/33919113 http://dx.doi.org/10.3390/ijms22094303 |
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