A splice site mutation in a gene encoding for PDK4, a mitochondrial protein, is associated with the development of dilated cardiomyopathy in the Doberman pinscher

Human Genetics

Volumn 131, Issue 8, 2012, Pages 1319-1325

  Meurs, Kathryn M ^a,b   Lahmers, Sunshine ^b   Keene, Bruce W ^a   White, Stephen N ^b,c   Oyama, Mark A ^d   Mauceli, Evan ^e   Lindblad Toh, Kerstin ^e,f  

^a NORTH CAROLINA STATE UNIVERSITY   (United States)

^b WASHINGTON STATE UNIVERSITY   (United States)

^c U S DEPARTMENT OF AGRICULTURE   (United States)

^d UNIVERSITY OF PENNSYLVANIA SCHOOL OF VETERINARY MEDICINE   (United States)

^e BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^f UPPSALA UNIVERSITY   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CHROMOSOME 14; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; DISEASE COURSE; DOG; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; NONHUMAN; PRIORITY JOURNAL; PYRUVATE DEHYDROGENASE KINASE 4 GENE; SINGLE NUCLEOTIDE POLYMORPHISM;

ANIMALS; BLOTTING, WESTERN; CARDIOMYOPATHY, DILATED; CHROMOSOME MAPPING; DOG DISEASES; DOGS; GENOME-WIDE ASSOCIATION STUDY; MICROSCOPY, ELECTRON; MUTATION; MYOCARDIUM; PROTEIN KINASES; REAL-TIME POLYMERASE CHAIN REACTION; RNA SPLICING;

ANIMALIA; CANIS FAMILIARIS;

EID: 84864276660     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-012-1158-2     Document Type: Article

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