A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund

The neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage diseases characterized by progressive neurodegeneration and accumulation of autofluorescent storage granules. A 9 month old Miniature Dachshund presented with NCL-like signs that included disorientation, ataxia, weakness, visual impairm...

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Detalhes bibliográficos
Main Authors: Sanders, Douglas N., Farias, Fabiana H., Johnson, Gary S., Chiang, Vivian, Cook, James R., O’Brien, Dennis P., Hofmann, Sandra L., Lu, Jui-Yun, Katz, Martin L.
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2930207/
https://ncbi.nlm.nih.gov/pubmed/20494602
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2010.04.009
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