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A One Base Pair Deletion in the Canine ATP13A2 Gene Causes Exon Skipping and Late-Onset Neuronal Ceroid Lipofuscinosis in the Tibetan Terrier
Neuronal ceroid lipofuscinosis (NCL) is a progressive neurodegenerative disease characterized by brain and retinal atrophy and the intracellular accumulation of autofluorescent lysosomal storage bodies resembling lipofuscin in neurons and other cells. Tibetan terriers show a late-onset lethal form o...
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| Main Authors: | , , , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Public Library of Science
2011
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3192819/ https://ncbi.nlm.nih.gov/pubmed/22022275 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1002304 |
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