Epidemiological, Clinical and Genetic Study of Hypophosphatasia in A Spanish Population: Identification of Two Novel Mutations in The Alpl Gene

Hypophosphatasia (HPP) is a genetic disease caused by one or several mutations in ALPL gene encoding the tissue-nonspecific alkaline phosphatase affecting the mineralization process. Due to its low prevalence and lack of recognition, this metabolic disorder is generally confused with other more freq...

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Detalles Bibliográficos
Autores principales: García-Fontana, Cristina, Villa-Suárez, Juan M., Andújar-Vera, Francisco, González-Salvatierra, Sheila, Martínez-Navajas, Gonzalo, Real, Pedro J., Gómez Vida, José M., de Haro, Tomás, García-Fontana, Beatriz, Muñoz-Torres, Manuel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6606844/
https://www.ncbi.nlm.nih.gov/pubmed/31267001
http://dx.doi.org/10.1038/s41598-019-46004-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6606844/
https://www.ncbi.nlm.nih.gov/pubmed/31267001
http://dx.doi.org/10.1038/s41598-019-46004-2

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