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A Homozygous MAN2B1 Missense Mutation in a Doberman Pinscher Dog with Neurodegeneration, Cytoplasmic Vacuoles, Autofluorescent Storage Granules, and an α-Mannosidase Deficiency
A 7-month-old Doberman Pinscher dog presented with progressive neurological signs and brain atrophy suggestive of a hereditary neurodegenerative disorder. The dog was euthanized due to the progression of disease signs. Microscopic examination of tissues collected at the time of euthanasia revealed m...
Autores principales: | Bullock, Garrett, Johnson, Gary S., Pattridge, Savannah G., Mhlanga-Mutangadura, Tendai, Guo, Juyuan, Cook, James, Campbell, Rebecca S., Vite, Charles H., Katz, Martin L. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10531151/ https://www.ncbi.nlm.nih.gov/pubmed/37761886 http://dx.doi.org/10.3390/genes14091746 |
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