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Article

Characterization of the mutant (A115V) tissue-nonspecific alkaline phosphatase gene from adult-type hypophosphatasia.

Biochemical and biophysical research communications - 4 Feb 2005

Watanabe Hisashi, Takinami Hiroyuki, Goseki-Sone Masae, Orimo Hideo, Hamatani Ryoko, Ishikawa Isao

Abstract excerpt

Hypophosphatasia (HOPS) is a clinically heterogeneous heritable disorder characterized by defective skeletal mineralization, deficiency of tissue-nonspecific alkaline phosphatase (TNSALP) activity, and premature loss of deciduous teeth. To date, various mutations in the TNSALP gene have been identified. Especially, A115V located in exon 5 has been detected in a Japanese patient with severe periodontitis and...

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PMID: 15629439
DOI: 10.1016/j.bbrc.2004.11.155

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Characterization of the mutant (A115V) tissue-nonspecific alkaline phosphatase gene from adult-type hypophosphatasia.PMID 15629439Read ↗

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