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Article

A Missense Mutation in Canine <i>CLN6</i> in an Australian Shepherd with Neuronal Ceroid Lipofuscinosis

22 Dec 2010

Abstract excerpt

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 were found to contain massive accumulations of autofluorescent inclusions characteristic of the NCLs. Nucleotide...

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PMID: 21234413
DOI: 10.1155/2011/198042

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A Missense Mutation in Canine <i>CLN6</i> in an Australian Shepherd with Neuronal Ceroid LipofuscinosisPMID 21234413Read ↗

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