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Article

The mutant (F310L and V365I) tissue-nonspecific alkaline phosphatase gene from hypophosphatasia.

Journal of medical and dental sciences - 1 Mar 2004

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

Abstract excerpt

Hypophosphatasia (HOPS) is a heritable disorder characterized by defective skeletal mineralization, deficiency of tissue-nonspecific alkaline phosphatase (TNSALP) activity and premature loss of deciduous teeth. In a previous study, we detected missense mutations in the TNSALP gene of a patient who inherited the F310L and the V365I mutation with severe periodontitis and childhood HOPS. Expression of the mutant...

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PMID: 15137467

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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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The mutant (F310L and V365I) tissue-nonspecific alkaline phosphatase gene from hypophosphatasia.PMID 15137467Read ↗

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