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ALPL gene

Discuss publications and research concerning the ALPL gene.

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Related literature

Hypophosphatasia: Results of a Country-Wide Selective Screening Program Using NGS Technology as a First-Tier Test.
ALPL
Integrated Genetic and Biochemical Approach to Patients with Bone Disorders Exhibiting Low Alkaline Phosphatase.
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Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework.
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Intrafamilial phenotypic variability in hypophosphatasia: evidence from two families and the literature.
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Neonatal hypophosphatasia: a case report of a rare genetic disorder.
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Pediatric hypophosphatasia: avoid diagnosis missteps!
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Mild hypophosphatasia may be twice as prevalent as previously estimated: an effective clinical algorithm to detect undiagnosed cases.
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Systemic effects of hypophosphatasia characterization of two novel variants in the ALPL gene.
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Integration of summary data from GWAS and eQTL studies identified novel causal BMD genes with functional predictions.
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Hypophosphatasia.
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