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Phenotypic Characterization of a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis

Juvenile neuronal ceroid lipofuscinosis (JNCL) is an autosomal recessively inherited neurodegenerative disorder that results from mutations in the CLN3 gene. JNCL is characterized by accumulation of autofluorescent lysosomal storage bodies, vision loss, seizures, progressive cognitive and motor decl...

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Autors principals: Katz, Martin L., Johnson, Gary S., Tullis, Gregory E., Lei, Bo
Format: Artigo
Idioma:Inglês
Publicat: 2007
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2268761/
https://ncbi.nlm.nih.gov/pubmed/17962032
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nbd.2007.08.017
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