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

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...

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Main Authors: Raquel Sanabria-de la Torre, Luis Martínez-Heredia, Sheila González-Salvatierra, Francisco Andújar-Vera, Iván Iglesias-Baena, Juan Miguel Villa-Suárez, Victoria Contreras-Bolívar, Mario Corbacho-Soto, Gonzalo Martínez-Navajas, Pedro J. Real, Cristina García-Fontana, Manuel Muñoz-Torres, Beatriz García-Fontana
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-04-01
Series:Frontiers in Endocrinology
Subjects:
alkaline phosphatase
bone
hypophosphatasia
mineralization
genetic variant
enzymatic activity
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2022.863940/full

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https://www.frontiersin.org/articles/10.3389/fendo.2022.863940/full

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