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Article

Variant in C-terminal region of intestinal alkaline phosphatase associated with benign familial hyperphosphatasaemia.

Journal of medical genetics - 1 Oct 2018

Ishige Takayuki, Itoga Sakae, Utsuno Emi, Nishimura Motoi, Yoshikawa Masaharu, Kato Naoya, Matsushita Kazuyuki, Yokosuka Osamu, Nomura Fumio

Abstract excerpt

BACKGROUND: A genetic diagnosis has been rarely performed in benign familial hyperphosphatasaemia, and molecular mechanism largely remains unclear. OBJECTIVES: We encountered a case with benign familial hyperphosphatasaemia of intestinal alkaline phosphatase (IAP). To elucidate the molecular mechanism, we performed ALPI gene sequencing and in vitro protein expression analysis. METHODS: ALPI gene was sequenced by...

Read the complete abstract on PubMed

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Share to Alkaline Phosphatase
Share to Cell Line

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Variation

Share to Glycosylphosphatidylinositols

Share to GPI-Linked Proteins

Share to Intestines

Share to Mutagenesis, Insertional

Share to Sequence Deletion

Source

Identifiers

PMID: 29331981
DOI: 10.1136/jmedgenet-2017-104964

Genes

ALPI
GPI

Provenance

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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