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Article

[Infantile hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase gene].

Zhonghua nei ke za zhi - 1 Oct 2013

Zhao Zhen, Xia Wei-bo, Xing Xiao-ping, Li Mei, Wang Ou, Jiang Yan, Xu Li-jun, Li Nan

Abstract excerpt

OBJECTIVE: To explore the clinical and genetic characteristics of a Chinese boy with infantile hypophosphatasia. METHODS: The clinical data of the boy was carefully collected. The laboratory and radiographic examination were taken in the case. Sequencing for all the twelve ALPL exons and the flan...

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Source

Identifiers

PMID: 24378058

Genes

ALPL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24378058-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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[Infantile hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase gene].PMID 24378058Read ↗

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

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Clinical and genetic characteristics of hypophosphatasia in Chinese children.Semantic proximity Read ↗

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First Korean Case of Infantile Hypophosphatasia with Novel Mutation in ALPL and Literature Review.Semantic proximity Read ↗

Clinical and Genetic Characteristics of Hypophosphatasia in Chinese ChildrenSemantic proximity Read ↗

[Analysis of ALPL gene variant in a patient with infantile hypophosphatasia].Semantic proximity Read ↗

Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene.Semantic proximity Read ↗

Hypophosphatasia now draws more attention of both clinicians and researchers: a commentary on Prevalence of c. 1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasias in Japanese and effects of the mutation on heterozygous carriers.Semantic proximity Read ↗

Clinical and genetic aspects of hypophosphatasia in Japanese patients.Semantic proximity Read ↗

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