Genome-Wide Association Analysis Identifies a Mutation in the Thiamine Transporter 2 (SLC19A3) Gene Associated with Alaskan Husky Encephalopathy

Alaskan Husky Encephalopathy (AHE) has been previously proposed as a mitochondrial encephalopathy based on neuropathological similarities with human Leigh Syndrome (LS). We studied 11 Alaskan Husky dogs with AHE, but found no abnormalities in respiratory chain enzyme activities in muscle and liver,...

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Autors principals: Vernau, Karen M., Runstadler, Jonathan A., Brown, Emily A., Cameron, Jessie M., Huson, Heather J., Higgins, Robert J., Ackerley, Cameron, Sturges, Beverly K., Dickinson, Peter J., Puschner, Birgit, Giulivi, Cecilia, Shelton, G. Diane, Robinson, Brian H., DiMauro, Salvatore, Bollen, Andrew W., Bannasch, Danika L.
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2013
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3587633/
https://ncbi.nlm.nih.gov/pubmed/23469184
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0057195
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