A Missense Mutation in Canine CLN6 in an Australian Shepherd with Neuronal Ceroid Lipofuscinosis

The childhood neuronal ceroid lipofuscinoses (NCLs) are inherited neurodegenerative diseases that are progressive and ultimately fatal. An Australian Shepherd that exhibited a progressive neurological disorder with signs similar to human NCL was evaluated. The cerebral cortex, cerebellum, and retina...

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Hlavní autoři: Katz, Martin L., Farias, Fabiana H., Sanders, Douglas N., Zeng, Rong, Khan, Shahnawaz, Johnson, Gary S., O'Brien, Dennis P.
Médium: Artigo
Jazyk:Inglês
Vydáno: Hindawi Publishing Corporation 2011
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3014706/
https://ncbi.nlm.nih.gov/pubmed/21234413
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2011/198042
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