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Article

A novel missense mutation in the ALPL gene causes dysfunction of the protein.

Molecular medicine reports - 1 Jul 2017

Chen Bin, Li Lili, Ren Weitong, Yi Long, Wang Yaping, Yan Fuhua

Abstract excerpt

Hypophosphatasia (HP) is a rare genetic disease caused by mutation in the alkaline phosphatase, liver/bone/kidney (ALPL) gene with highly variable clinical manifestations. Efforts have been made to collect cases with novel mutations and to examine how a missense mutation affects ALPL protein function, which remains difficult to predict. The present study investigated the underlying mechanism of ALPL dysfunction...

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Share to Alkaline Phosphatase
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28586049
DOI: 10.3892/mmr.2017.6668
PMCID: PMC5482188

Genes

ALPL

Variants

Provenance

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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