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Article

Functional assay of the mutant tissue-nonspecific alkaline phosphatase gene using U2OS osteoblast-like cells.

Molecular genetics and metabolism - 1 Jul 2008

Orimo Hideo, Goseki-Sone Masae, Hosoi Takayuki, Shimada Takashi

Abstract excerpt

Tissue-nonspecific alkaline phosphatase (TNAP) plays a key role in mineralization. A defect in the TNAP gene causes hypophosphatasia, which is characteristic of systemic skeletal hypomineralization. To determine the mineralizing ability of the mutant proteins, we developed a functional assay that...

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Source

Identifiers

PMID: 18455459
DOI: 10.1016/j.ymgme.2008.03.015

Genes

PHEX

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18455459-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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