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Article

Dynamics of mitochondrial heteroplasmy in three families investigated via a repeatable re-sequencing study.

Genome biology - 1 Jan 2011

Goto Hiroki, Dickins Benjamin, Afgan Enis, Paul Ian M, Taylor James, Makova Kateryna D, Nekrutenko Anton

Abstract excerpt

BACKGROUND: Originally believed to be a rare phenomenon, heteroplasmy - the presence of more than one mitochondrial DNA (mtDNA) variant within a cell, tissue, or individual - is emerging as an important component of eukaryotic genetic diversity. Heteroplasmies can be used as genetic markers in applications ranging from forensics to cancer diagnostics. Yet the frequency of heteroplasmic alleles may vary from...

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Identifiers

PMID: 21699709
DOI: 10.1186/gb-2011-12-6-r59
PMCID: PMC3218847

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