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Article

Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV.

Mammalian genome : official journal of the International Mammalian Genome Society - 1 Jul 2004

Ward Tara L, Valberg Stephanie J, Adelson David L, Abbey Colette A, Binns Matthew M, Mickelson James R

Abstract excerpt

Comparative biochemical and histopathological evidence suggests that a deficiency in the glycogen branching enzyme, encoded by the GBE1 gene, is responsible for a recently identified recessive fatal fetal and neonatal glycogen storage disease (GSD) in American Quarter Horses termed GSD IV. We have now derived the complete GBE1 cDNA sequences for control horses and affected foals, and identified a C to A...

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Identifiers

PMID: 15366377
DOI: 10.1007/s00335-004-2369-1

Genes

GBE1

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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.

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