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Ocular Phenotype in a Mouse Gene Knockout Model for Infantile Neuronal Ceroid Lipofuscinosis

Mutations in the human protein palmitoyl thioesterase-1 (PPT-1) gene result in an autosomal recessive neurodegenerative disorder designated neuronal ceroid lipofuscinosis (NCL), type CLN1, or infantile NCL. Among the symptoms of the CLN1 disease are accumulation of autofluorescent lysosomal storage...

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Autores principales: Lei, Bo, Tullis, Gregory E., Kirk, Mark D., Zhang, Keqing, Katz, Martin L.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2006
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3384550/
https://ncbi.nlm.nih.gov/pubmed/16881055
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jnr.21008
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