Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method

Background: Next-generation sequencing (NGS) technology is revolutionizing diagnostic screening for mitochondrial diseases (MDs). Moreover, an investigation by NGS still requires analyzing the mitochondrial genome and nuclear genes separately, with limitations in terms of time and costs. We describe...

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Detalles Bibliográficos
Autores principales: Barretta, Ferdinando, Uomo, Fabiana, Caldora, Filomena, Mocerino, Rossella, Adamo, Daniela, Testa, Francesco, Simonelli, Francesca, Scudiero, Olga, Tinto, Nadia, Frisso, Giulia, Mazzaccara, Cristina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10217848/
https://www.ncbi.nlm.nih.gov/pubmed/37239447
http://dx.doi.org/10.3390/genes14051087

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10217848/
https://www.ncbi.nlm.nih.gov/pubmed/37239447
http://dx.doi.org/10.3390/genes14051087

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