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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...
Autores principales: | Hammack, Samantha, Hague, Devon Wallis, Vieson, Miranda D., Esdaile, Elizabeth, Hughes, Shayne S., Bellone, Rebecca R., McCoy, Annette M. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2023
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Materias: | |
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 |
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