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Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency

Isolated Complex I (CI) deficiency is the most commonly observed mitochondrial respiratory chain biochemical defect, affecting the largest OXPHOS component. CI is genetically heterogeneous; pathogenic variants affect one of 38 nuclear-encoded subunits, 7 mitochondrial DNA (mtDNA)-encoded subunits or...

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Detalles Bibliográficos
Autores principales:	Ahmed, Syeda T., Alston, Charlotte L., Hopton, Sila, He, Langping, Hargreaves, Iain P., Falkous, Gavin, Oláhová, Monika, McFarland, Robert, Turnbull, Doug M., Rocha, Mariana C., Taylor, Robert W.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2017
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5688115/ https://www.ncbi.nlm.nih.gov/pubmed/29142257 http://dx.doi.org/10.1038/s41598-017-14623-2

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