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Article

Allele frequency and likely impact of the glycogen branching enzyme deficiency gene in Quarter Horse and Paint Horse populations.

Journal of veterinary internal medicine - 1 Jan 2000

Wagner M L, Valberg S J, Ames E G, Bauer M M, Wiseman J A, Penedo M C T, Kinde H, Abbitt B, Mickelson J R

Abstract excerpt

Glycogen Branching Enzyme Deficiency (GBED), a fatal condition recently identified in fetuses and neonatal foals of the Quarter Horse and Paint Horse lineages, is caused by a nonsense mutation in codon 34 of the GBE1 gene, which prevents the synthesis of a functional GBE protein and severely disrupts glycogen metabolism. The aims of this project were to determine the mutant GBE1 allele frequency in random samples...

Topics

1,4-alpha-Glucan Branching Enzyme
Abortion, Veterinary
Alleles
Animals
Animals, Newborn
DNA
Female
Genotype
Glycogen Storage Disease Type IV
Histocytochemistry

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Horse Diseases

Horses

Muscle, Skeletal

Myocardium

Pedigree

Polymerase Chain Reaction

Pregnancy

Retrospective Studies

Source

Identifiers

PMID: 17063718
DOI: 10.1892/0891-6640(2006)20[1207:afalio]2.0.co;2

Genes

GBE1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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