Associated Papers
Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.
Glotov OS et al.
International Journal of Molecular Sciences, 2022
Large-scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia.
Del Angel G et al.
Human Mutation, 2020
32160374 (PubMed )
Supplement: HUMU-41-1250-s002.xlsx › Supplemental_table_2
Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene.
Spentchian M et al.
Human Mutation, 2003
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