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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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Detalhes bibliográficos
Main Authors: Mitchell, A L, Elson, J L, Howell, N, Taylor, R W, Turnbull, D M
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2006
Assuntos:
Acesso em linha: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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