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Article

Kinetic characterization of hypophosphatasia mutations with physiological substrates.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Aug 2002

Di Mauro Sonia, Manes Thomas, Hessle Lovisa, Kozlenkov Alexey, Pizauro João Martins Júnior, Hoylaerts Marc F, Millán Jose Luis

Abstract excerpt

We have analyzed 16 missense mutations of the tissue-nonspecific AP (TNAP) gene found in patients with hypophosphatasia. These mutations span the phenotypic spectrum of the disease, from the lethal perinatal/ infantile forms to the less severe adult and odontohypophosphatasia. Site-directed mutagenesis was used to introduce a sequence tag into the TNAP cDNA and eliminate the glycosylphosphatidylinositol...

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PMID: 12162492
DOI: 10.1359/jbmr.2002.17.8.1383

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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