Novel genetic variant associated with globoid cell leukodystrophy in a family of mixed breed dogs.

Samantha HammackDevon Wallis HagueMiranda D ViesonElizabeth EsdaileShayne S HughesRebecca R BelloneAnnette M McCoy

Published in: Journal of veterinary internal medicine (2023)

A novel GALC variant was identified that likely explains GCL in this cohort. The identification of multiple causal variants for GCL in dogs is consistent with findings in humans.

Keyphrases

copy number
single cell
cell therapy
genome wide
dna methylation
gene expression