TY  - GEN 
AU  - Sanabria de la Torre, Raquel
AU  - Martínez Heredia, Luis
AU  - González Salvatierra, Sheila
AU  - Andújar Vera, Francisco Luis
AU  - Villa Suárez, Juan Miguel
AU  - Contreras Bolívar, Victoria
AU  - Corbacho Soto, Mario
AU  - Martínez Navajas, Gonzalo
AU  - Real Luna, Pedro José
AU  - García Fontana, Cristina
AU  - Muñoz Torres, Manuel Eduardo
AU  - García Fontana, Beatriz
PY  - 2022
UR  - http://hdl.handle.net/10481/75320
AB  - 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...
LA  - eng
PB  - Frontiers
KW  - Alkaline phosphatase
KW  - Bone
KW  - Hypophosphatasia
KW  - Mineralization
KW  - Genetic variant
KW  - Enzymatic activity
KW  - Pyridoxal 5' phosphate
TI  - Characterization of Genetic Variants of Uncertain Significance for the ALPL Gene in Patients With Adult Hypophosphatasia
DO  - 10.3389/fendo.2022.863940
ER  -