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Article

Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia.

European journal of pediatrics - 1 May 2005

Michigami Toshimi, Uchihashi Takayuki, Suzuki Akira, Tachikawa Kanako, Nakajima Shigeo, Ozono Keiichi

Abstract excerpt

UNLABELLED: A total of 22 Japanese patients with hypophosphatasia were included in a study analysing the relationship between mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene and the severity of the phenotype in Japanese patients with hypophosphatasia. The enzymatic activity of some of the identified mutant TNSALP proteins was also examined using corresponding expression vectors. Eighteen...

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Source

Identifiers

PMID: 15660230
DOI: 10.1007/s00431-004-1612-9

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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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