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Article

Clinical, pathological and genetic evaluations of Chinese patients with autosomal-dominant hypophosphatasia.

Archives of oral biology - 1 Dec 2010

Wei Ke-wen, Xuan Kun, Liu Yan-li, Fang Jun, Ji Kun, Wang Xi, Jin Yan, Watanabe Shigeru, Watanabe Koji, Ojihara Takashi

Abstract excerpt

OBJECTIVES: Hypophosphatasia (HPP) is an inherited disorder characterised by defective bone and tooth mineralisation and deficient serum and bone alkaline phosphatase activity, and it results from mutations in alkaline phosphatase (ALPL) encoding tissue-nonspecific alkaline phosphatase (TNAP). Th...

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Source

Identifiers

PMID: 20828673
DOI: 10.1016/j.archoralbio.2010.08.003

Genes

ALPL

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20828673-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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