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Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletions
Primary mitochondrial diseases are progressive genetic disorders affecting multiple organs and characterized by mitochondrial dysfunction. These disorders can be caused by mutations in nuclear genes coding proteins with mitochondrial localization or by genetic defects in the mitochondrial genome (mt...
Autores principales: | Frascarelli, Chiara, Zanetti, Nadia, Nasca, Alessia, Izzo, Rossella, Lamperti, Costanza, Lamantea, Eleonora, Legati, Andrea, Ghezzi, Daniele |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10344361/ https://www.ncbi.nlm.nih.gov/pubmed/37456669 http://dx.doi.org/10.3389/fgene.2023.1089956 |
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