Neuronal Ceroid Lipofuscinosis in a Domestic Cat Associated with a DNA Sequence Variant That Creates a Premature Stop Codon in CLN6

A neutered male domestic medium-haired cat presented at a veterinary neurology clinic at 20 months of age due to progressive neurological signs that included visual impairment, focal myoclonus, and frequent severe generalized seizures that were refractory to treatment with phenobarbital. Magnetic re...

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Detalles Bibliográficos
Autores principales: Katz, Martin L., Buckley, Reuben M., Biegen, Vanessa, O’Brien, Dennis P., Johnson, Gayle C., Warren, Wesley C., Lyons, Leslie A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Genetics Society of America 2020
Materias:
Investigations
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7407459/
https://www.ncbi.nlm.nih.gov/pubmed/32518081
http://dx.doi.org/10.1534/g3.120.401407

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