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Article

Potential pathological role of single nucleotide polymorphism (c.787T>C) in alkaline phosphatase (ALPL) for the phenotypes of hypophosphatasia.

Endocrine journal - 28 Dec 2020

Matsuda Nozomi, Takasawa Kei, Ohata Yasuhisa, Takishima Shigeru, Kubota Takuo, Ishihara Yasuki, Fujiwara Makoto, Ogawa Erika, Morio Tomohiro, Kashimada Kenichi, Ozono Keiichi

Abstract excerpt

Hypophosphatasia (HPP; OMIM 241510, 241500, and 146300) is an inherited metabolic disease characterized by defects of bone and tooth mineralization, which is caused by loss-of-function mutations in the ALPL gene encoding tissue non-specific alkaline phosphatase (TNSALP). In the last three decades, several studies have focused on the genotype-phenotype correlation in hypophosphatasia (HPP). In particular,...

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Identifiers

PMID: 32779619
DOI: 10.1507/endocrj.EJ20-0203

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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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