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...

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Detalles Bibliográficos
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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
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

Internet

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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