Associated Papers
Revisiting the Genetics of Hypophosphatasia.
Kishnani PS et al.
Journal of Inherited Metabolic Disease, 2025
The structural pathology for hypophosphatasia caused by malfunctional tissue non-specific alkaline phosphatase.
Yu Y et al.
Nature Communications, 2023
37422472 (PubMed )
Supplement: 41467_2023_39833_MOESM4_ESM.xlsx › Sheet1_
Characterization of Genetic Variants of Uncertain Significance for the ALPL Gene in Patients With Adult Hypophosphatasia.
Sanabria-de la Torre R et al.
Frontiers in Endocrinology, 2022
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