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Conditional <i>Alpl</i> Ablation Phenocopies Dental Defects of Hypophosphatasia

31 Aug 2016

Abstract excerpt

Loss-of-function mutations in ALPL result in hypophosphatasia (HPP), an inborn error of metabolism that causes defective skeletal and dental mineralization. ALPL encodes tissue-nonspecific alkaline phosphatase, an enzyme expressed in bone, teeth, liver, and kidney that hydrolyzes the mineralization inhibitor inorganic pyrophosphate. As Alpl-null mice die before weaning, we aimed to generate mouse models of...

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PMID: 27582029
DOI: 10.1177/0022034516663633

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