Article
Synergistic heterozygosity in mice with inherited enzyme deficiencies of mitochondrial fatty acid beta-oxidation.
Molecular genetics and metabolism - 1 May 2005
Schuler A Michele, Gower Barbara A, Matern Dietrich, Rinaldo Piero, Vockley Jerry, Wood Philip A
Abstract excerpt
We have used mice with inborn errors of mitochondrial fatty acid beta-oxidation to test the concept of synergistic heterozygosity. We postulated that clinical disease can result from heterozygous mutations in more than one gene in single or related metabolic pathways. Mice with combinations of mutations in mitochondrial fatty acid beta-oxidation genes were cold challenged to test their ability to maintain normal...
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