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...
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