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

Glucose-6-phosphatase gene (727G-->T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type 1a.

Clinical genetics - 1 Mar 1998

Lam C W, But W M, Shek C C, Tong S F, Chan Y S, Choy K W, Tse W Y, Pang C P, Hjelm N M

Abstract excerpt

Glycogen storage disease type la (GSD1a) is an autosomal recessive metabolic disorder caused by a deficiency in glucose-6-phosphatase (G6Pase). We analyzed the G6Pase genes of two unrelated Chinese families with GSD1a. DNA sequencing of all five exons and the exon-intron boundaries revealed a G T transversion at nucleotide 727 (727G-->T) in exon 5, which has previously been reported to cause abnormal splicing. In...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to DNA

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

Share to Genetic Carrier Screening

Share to Homozygote

Share to Infant

Share to Mutation

Share to Pedigree

Share to RNA Splicing

Source

Identifiers

PMID: 9630072
DOI: 10.1111/j.1399-0004.1998.tb02674.x

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Glucose-6-phosphatase gene (727G-->T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type 1a.PMID 9630072Read ↗

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

Molecular genetics of glycogen-storage disease type 1a in Chinese patients of Taiwan.Semantic proximity Read ↗

Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia.Semantic proximity Read ↗

Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.Semantic proximity Read ↗

Molecular genetic analysis of glycogen storage disease type Ia in 26 Chinese patients.Semantic proximity Read ↗

Molecular analysis of glycogen storage disease type Ia in Iranian Azeri Turks: identification of a novel mutation.Semantic proximity Read ↗

Analyzing the Distribution of Mutations for Glycogen Storage Disease Type 1a in Turkey and Suggested Gene Therapy Methods for Its TreatmentSemantic proximity Read ↗

Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia.Semantic proximity Read ↗

[Heterogeneous phenotypes in Chinese glycogen storage disease type Ia patients with homozygous G727T mutation].Semantic proximity Read ↗

Molecular genetic analysis and phenotypic characteristics of a consanguineous family with glycogen storage disease type Ia.Semantic proximity Read ↗

Molecular, Biochemical, and Clinical Characterization of Thirteen Patients with Glycogen Storage Disease 1a in Malaysia.Semantic proximity Read ↗

Three novel mutations of the G6PC gene identified in Chinese patients with glycogen storage disease type Ia.Semantic proximity Read ↗

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