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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...

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Detalles Bibliográficos
Autores principales: Frascarelli, Chiara, Zanetti, Nadia, Nasca, Alessia, Izzo, Rossella, Lamperti, Costanza, Lamantea, Eleonora, Legati, Andrea, Ghezzi, Daniele
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
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