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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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Bibliografische gegevens
Hoofdauteurs: Mitchell, A L, Elson, J L, Howell, N, Taylor, R W, Turnbull, D M
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BMJ Group 2006
Onderwerpen:
Online toegang: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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