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Article

A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III.

Biochemical and biophysical research communications - 16 Jul 1996

Okubo M, Aoyama Y, Murase T

Abstract excerpt

Analysis of glycogen debranching enzyme (debrancher) cDNA from a patient with glycogen storage disease type III revealed a deletion of 124 base pairs. A donor splice site mutation (IVS G+1 to T) was identified in the patient's debrancher gene, which caused exon skipping of the upstream exon and resulted in a truncated enzyme due to premature termination. Mutational analysis of the patient's family showed that...

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PMID: 8702417
DOI: 10.1006/bbrc.1996.1055

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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