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

Samantha Hammack,Devon Wallis Hague, Miranda D Vieson,Elizabeth Esdaile, Shayne S Hughes,Rebecca R Bellone,Annette M McCoy

Journal of veterinary internal medicine（2023）

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摘要

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.

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关键词

canine, congenital disease, GALC, Krabbe disease, neurologic disease

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