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

Ferdinando BarrettaFabiana UomoFilomena CaldoraRossella MocerinoDaniela AdamoFrancesco TestaFrancesca SimonelliOlga Scudiero Nadia Tinto Giulia Frisso Cristina Mazzaccara

Published in: Genes (2023)

Our custom Agilent SureSelect MITO-NUCLEAR panel provides a potential "one-step" investigation that may be applied to both research and genetic diagnosis of MDs, allowing the simultaneous discovery of nuclear and mitochondrial mutations.

Keyphrases

oxidative stress
healthcare
small molecule
genome wide
human health
single cell
copy number
clinical evaluation