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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Detalles Bibliográficos
Autores principales: Wöhlke, Anne, Philipp, Ute, Bock, Patricia, Beineke, Andreas, Lichtner, Peter, Meitinger, Thomas, Distl, Ottmar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3192819/
https://www.ncbi.nlm.nih.gov/pubmed/22022275
http://dx.doi.org/10.1371/journal.pgen.1002304

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