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Article

Four novel mutations in the ALPL gene in Chinese patients with odonto, childhood, and adult hypophosphatasia.

Bioscience reports - 31 Aug 2018

Xu Lijun, Pang Qianqian, Jiang Yan, Wang Ou, Li Mei, Xing Xiaoping, Xia Weibo

Abstract excerpt

Hypophosphatasia (HPP) is a rare inherited disorder characterized by defective bone and/or dental mineralization, and decreased serum alkaline phosphatase (ALP) activity. ALPL, the only gene related with HPP, encodes tissue non-specific ALP (TNSALP). Few studies were carried out in ALPL gene mutations in the Chinese population with HPP. The purpose of the present study is to elucidate the clinical and genetic...

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Source

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Identifiers

PMID: 29724887
DOI: 10.1042/BSR20171377
PMCID: PMC6131208

Genes

ALPL

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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