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Article

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

American journal of human genetics - 1 Oct 1995

Lei K J, Chen Y T, Chen H, Wong L J, Liu J L, McConkie-Rosell A, Van Hove J L, Ou H C, Yeh N J, Pan L Y

Abstract excerpt

Diagnosis of glycogen storage disease (GSD) type 1a currently is established by demonstrating the lack of glucose-6-phosphatase (G6Pase) activity in the patient's biopsied liver specimen. Recent cloning of the G6Pase gene and identification of mutations within the gene that causes GSD type 1a allow for the development of a DNA-based diagnostic method. Using SSCP analysis and DNA sequencing, we characterized the...

Topics

Alleles
Base Sequence
Ethnicity
Glucose-6-Phosphatase
Glycogen Storage Disease Type I
Humans
Molecular Sequence Data
Mutation
Polymorphism, Single-Stranded Conformational
Prevalence

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PMID: 7573034
PMCID: PMC1801521

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7573034-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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