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

BACKGROUND: Globoid cell leukodystrophy (GCL) is a fatal autosomal recessive disease caused by variants in the galactosylceramidase (GALC) gene. Two dog breed‐specific variants are reported. OBJECTIVES: Characterize the putatively causative GALC variant for GCL in a family of dogs and determine popu...

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Detalles Bibliográficos
Autores principales: Hammack, Samantha, Hague, Devon Wallis, Vieson, Miranda D., Esdaile, Elizabeth, Hughes, Shayne S., Bellone, Rebecca R., McCoy, Annette M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2023
Materias:
SMALL ANIMAL
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10473001/
https://www.ncbi.nlm.nih.gov/pubmed/37593836
http://dx.doi.org/10.1111/jvim.16822

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10473001/
https://www.ncbi.nlm.nih.gov/pubmed/37593836
http://dx.doi.org/10.1111/jvim.16822

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