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

PLoS ONE

Volumn 8, Issue 3, 2013, Pages

  Vernau, Karen M ^a   Runstadler, Jonathan A ^b,g   Brown, Emily A ^a   Cameron, Jessie M ^c   Huson, Heather J ^b   Higgins, Robert J ^b   Ackerley, Cameron ^c   Sturges, Beverly K ^a   Dickinson, Peter J ^a   Puschner, Birgit ^a   Giulivi, Cecilia ^a   Shelton, G Diane ^d   Robinson, Brian H ^c   DiMauro, Salvatore ^e   Bollen, Andrew W ^f   Bannasch, Danika L ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF ALASKA FAIRBANKS   (United States)

^c HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e NewYork Presbyterian Hospital   (United States)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; CITRATE SYNTHASE; CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SUCCINATE DEHYDROGENASE; SUCCINATE DEHYDROGENASE (UBIQUINONE); THIAMINE; THIAMINE TRANSPORTER 2; UBIQUINOL CYTOCHROME C REDUCTASE; UNCLASSIFIED DRUG;

ALASKAN HUSKY ENCEPHALOPATHY; ANIMAL TISSUE; ARTICLE; BRAIN; CHROMOSOME; CHROMOSOME 25; CONTROLLED STUDY; DOG; EXON; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; HETEROZYGOTE; HOMOZYGOSITY; LIVER; MALE; MITOCHONDRIAL ENCEPHALOPATHY; MOLECULAR GENETICS; NONHUMAN; SINGLE NUCLEOTIDE POLYMORPHISM; SKELETAL MUSCLE; SLC19A3 GENE; SPINAL CORD; VITAMIN METABOLISM; ANIMAL; DOG DISEASE; GENE LOCUS; GENETICS; GENOME-WIDE ASSOCIATION STUDY; HOMOZYGOTE; HUMAN; LEIGH DISEASE; METABOLIC ENCEPHALOPATHY; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; TRANSPORT AT THE CELLULAR LEVEL; VETERINARY;

ANIMALS; BASE SEQUENCE; BIOLOGICAL TRANSPORT; BRAIN DISEASES, METABOLIC; DOG DISEASES; DOGS; EXONS; FEMALE; GENETIC LOCI; GENOME-WIDE ASSOCIATION STUDY; HETEROZYGOTE; HOMOZYGOTE; HUMANS; LEIGH DISEASE; MALE; MEMBRANE TRANSPORT PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; THIAMINE;

EID: 84874610816     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0057195     Document Type: Article

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