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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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Detalles Bibliográficos
Autores principales: Mitchell, A L, Elson, J L, Howell, N, Taylor, R W, Turnbull, D M
Formato: Artigo
Lenguaje:Inglês
Publicado: BMJ Group 2006
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Acceso en línea: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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