Canine GM2‐Gangliosidosis Sandhoff Disease Associated with a 3‐Base Pair Deletion in the HEXB Gene

BACKGROUND: GM2‐gangliosidosis is a fatal neurodegenerative lysosomal storage disease (LSD) caused by deficiency of either β‐hexosaminidase A (Hex‐A) and β‐hexosaminidase B (Hex‐B) together, or the GM2 activator protein. Clinical signs can be variable and are not pathognomonic for the specific, caus...

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Detalles Bibliográficos
Autores principales: Wang, P., Henthorn, P.S., Galban, E., Lin, G., Takedai, T., Casal, M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
SMALL ANIMAL
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5787214/
https://www.ncbi.nlm.nih.gov/pubmed/29106755
http://dx.doi.org/10.1111/jvim.14862

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5787214/
https://www.ncbi.nlm.nih.gov/pubmed/29106755
http://dx.doi.org/10.1111/jvim.14862

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