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Article

Sequence variation in mitochondrial complex I genes: mutation or polymorphism?

21 Jun 2005

Abstract excerpt

BACKGROUND: Defects of the mitochondrial genome are recognised as common causes of genetic disease. Sequencing of large portions or even the entire mitochondrial genome is routine in many laboratories for the investigation of mitochondrial disease. However, establishing whether a detected sequence change is polymorphic or pathogenic is still a major difficulty because of its highly polymorphic nature. This has...

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PMID: 15972314
DOI: 10.1136/jmg.2005.032474

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