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

[AGL gene analysis of a pedigree with glycogen storage disease type III and identification of a novel mutation].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Dec 2013

Wu Xiao-yun, Pan Jing-xin, Guo Yi-bin

Abstract excerpt

OBJECTIVE: To reveal the molecular genetic pathogenesis of the glycogen storage disease type III (GSDIII) and to provide a prerequisite for prenatal gene diagnosis in future. METHOD: All the coding regions as well as the border areas between exons and introns of the AGL gene and the parental relevant mutation sites were directly sequenced, so that to affirm the origin of the mutation. Then, detected novel...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to DNA Mutational Analysis

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

Share to Glycogen Debranching Enzyme System

Share to Heterozygote

Share to Pedigree

Share to Protein Conformation

Share to Sequence Alignment

Source

Identifiers

PMID: 24495762

Genes

AGL

Variants

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

[AGL gene analysis of a pedigree with glycogen storage disease type III and identification of a novel mutation].PMID 24495762Read ↗

[Analysis of two cases of glycogen storage disease type III due to compound heterozygous variants of AGL gene].Semantic proximity Read ↗

[Identification of a novel mutation of AGL gene in two siblings affected with glycogen storage disease type IIIa].Semantic proximity Read ↗

Novel variants in Turkish patients with glycogen storage disease.Semantic proximity Read ↗

[Genetic analysis of PYGL gene variants for a child with Glycogen storage disease VI].Semantic proximity Read ↗

Genetic analysis and clinical assessment of four patients with Glycogen Storage Disease Type IIIa in China.Semantic proximity Read ↗

[Clinical features and genetic analysis of a child with glycogen storage disease type VI].Semantic proximity Read ↗

[Mutation in the SLC37A4 gene of glycogen storage disease type Ib in 15 families of the mainland of China].Semantic proximity Read ↗

Genotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b).Semantic proximity Read ↗

Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing.Semantic proximity Read ↗

[Genetic analysis of a child with glycogen storage disease type IXa due to a novel variant in PHKA2 gene].Semantic proximity Read ↗

The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III.Semantic proximity Read ↗

[A case of glycogen storage disease type Ⅰa with gout as the main clinical manifestation].Semantic proximity Read ↗

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