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,...

पूर्ण विवरण

ग्रंथसूची विवरण
मुख्य लेखकों: Runstadler, Jonathan, Vernau, Karen M., 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.
अन्य लेखक: Massachusetts Institute of Technology. Department of Biological Engineering
स्वरूप: लेख
भाषा:en_US
प्रकाशित: Public Library of Science 2013
ऑनलाइन पहुंच:http://hdl.handle.net/1721.1/78615
https://orcid.org/0000-0002-6747-7765