Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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 flanking exon-intron junctions was performed in the proband and his parents with their genomic DNA. RESULTS: Two mutations...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alkaline Phosphatase
Share to ALPL gene
Share to Heterozygote

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Hypophosphatasia

Share to Infant

Share to Mutation

Share to Pedigree

Source

Identifiers

PMID: 24378058

Genes

ALPL

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

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

Two Novel Mutations in the ALPL gene of Unrelated Chinese Children with Hypophosphatasia: Case Reports and Literature ReviewSemantic proximity Read ↗

Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review.Semantic proximity Read ↗

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 ↗

[Infantile hypophosphatasia caused by a novel compound heterozygous mutation: a case report and pedigree analysis].Semantic proximity Read ↗

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

[Mutation analysis for two hypophosphatasia families with targeted next-generation sequencing].Semantic proximity Read ↗

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 ↗

⌁Select a neighboring publication to make it the new centre.