Neuronal ceroid lipofuscinosis in a German Shorthaired Pointer associated with a previously reported CLN8 nonsense variant

Two littermate German Shorthaired Pointers, a male and a female, were adopted as puppies from an animal shelter. Both puppies developed normally until approximately 11 months of age when the male began to exhibit neurological signs including ataxia, vision loss, and behavioral changes indicative of...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Guo, Juyuan, Johnson, Gary S., Cook, James, Harris, Olivia K., Mhlanga-Mutangadura, Tendai, Schnabel, Robert D., Jensen, Cheryl A., Katz, Martin L.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2019
Assuntos:
Research Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6819867/
https://ncbi.nlm.nih.gov/pubmed/31687336
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2019.100521
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