Large scale mtDNA sequencing reveals sequence and functional conservation as major determinants of homoplasmic mtDNA variant distribution

The mitochondrial DNA (mtDNA) is highly variable, containing large numbers of pathogenic mutations and neutral polymorphisms. The spectrum of homoplasmic mtDNA variation was characterized in 730 subjects and compared with known pathogenic sites. The frequency and distribution of variants in protein...

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Autors principals: Voets, A.M., van den Bosch, B.J.C., Stassen, A.P., Hendrickx, A.T., Hellebrekers, D.M., Van Laer, L., Van Eyken, E., Van Camp, G., Pyle, A., Baudouin, S.V., Chinnery, P.F., Smeets, H.J.M.
Format: Artigo
Idioma:Inglês
Publicat: 2011
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4038511/
https://ncbi.nlm.nih.gov/pubmed/21946566
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mito.2011.09.003
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