Article
Reconstruction of a human mitochondrial complex I mutation in the unicellular green alga Chlamydomonas.
The Plant journal : for cell and molecular biology - 1 Jun 2012
Larosa Véronique, Coosemans Nadine, Motte Patrick, Bonnefoy Nathalie, Remacle Claire
Abstract excerpt
Defects in complex I (NADH:ubiquinone oxidoreductase (EC 1.6.5.3)) are the most frequent cause of human respiratory disorders. The pathogenicity of a given human mitochondrial mutation can be difficult to demonstrate because the mitochondrial genome harbors large numbers of polymorphic base changes that have no pathogenic significance. In addition, mitochondrial mutations are usually found in the heteroplasmic...
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