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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Detaylı Bibliyografya
Asıl Yazarlar: Lei, Bo, Tullis, Gregory E., Kirk, Mark D., Zhang, Keqing, Katz, Martin L.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2006
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Article
Online Erişim: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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