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Validation of microarray-based resequencing of 93 worldwide mitochondrial genomes

Hartmann, Anne ; Thieme, Marian ; Nanduri, Lahiri K ; Stempfl, Thomas ; Moehle, Christoph ; Kivisild, Toomas ; Oefner, Peter J.


The human mitochondrial genome consists of a multicopy, circular dsDNA molecule of 16,569 base pairs. It encodes for 13 proteins, two ribosomal genes, and 22 tRNAs that are essential in the generation of cellular ATP by oxidative phosphorylation in eukaryotic cells. Germline mutations in mitochondrial DNA (mtDNA) are an important cause of maternally inherited diseases, while somatic mtDNA ...


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