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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Opis bibliograficzny

Główni autorzy:	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:	Artigo
Język:	Inglês
Wydane:	Frontiers Media S.A. 2022-04-01
Seria:	Frontiers in Endocrinology
Hasła przedmiotowe:	alkaline phosphatase bone hypophosphatasia mineralization genetic variant enzymatic activity
Dostęp online:	https://www.frontiersin.org/articles/10.3389/fendo.2022.863940/full
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