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

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 c...

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Main Authors: Mitchell, A L, Elson, J L, Howell, N, Taylor, R W, Turnbull, D M
Format: Artigo
Jezik:Inglês
Izdano: BMJ Group 2006
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC2564640/
https://ncbi.nlm.nih.gov/pubmed/15972314
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.032474
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