Associated Papers
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-s001.xlsx › Supplemental_table_1
Genetic analysis of adults heterozygous for ALPL mutations.
Taillandier A et al.
Journal of Bone and Mineral Metabolism, 2018
Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.
Taillandier A et al.
Molecular Genetics and Metabolism, 2015
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