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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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Autori principali: Katz, Martin L., Johnson, Gary S., Tullis, Gregory E., Lei, Bo
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2007
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Accesso online: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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