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

Ferdinando Barretta,Fabiana Uomo,Filomena Caldora, Rossella Mocerino,Daniela Adamo,Francesco Testa,Francesca Simonelli,Olga Scudiero,Nadia Tinto,Giulia Frisso,Cristina Mazzaccara

Genes（2023）

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摘要

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.

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关键词

mitochondrial-nuclear diseases diagnosis,mito-nuclear,one-step

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