Characterization of Genetic Variants of Uncertain Significance for the ALPL Gene in Patients With Adult Hypophosphatasia

Hypophosphatasia (HPP) a rare disease caused by mutations in the ALPL gene encoding for the tissue-nonspecific alkaline phosphatase protein (TNSALP), has been identified as a potentially under-diagnosed condition worldwide which may have higher prevalence than currently established. This is largely...

Descripción completa

Detalles Bibliográficos
Autores principales: Sanabria-de la Torre, Raquel, Martínez-Heredia, Luis, González-Salvatierra, Sheila, Andújar-Vera, Francisco, Iglesias-Baena, Iván, Villa-Suárez, Juan Miguel, Contreras-Bolívar, Victoria, Corbacho-Soto, Mario, Martínez-Navajas, Gonzalo, Real, Pedro J., García-Fontana, Cristina, Muñoz-Torres, Manuel, García-Fontana, Beatriz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9047899/
https://www.ncbi.nlm.nih.gov/pubmed/35498405
http://dx.doi.org/10.3389/fendo.2022.863940

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9047899/
https://www.ncbi.nlm.nih.gov/pubmed/35498405
http://dx.doi.org/10.3389/fendo.2022.863940

Ejemplares similares