Detection and localization of single-nucleotide mutations in synthetic oligonucleotides by ultra-high-performance liquid chromatography coupled with high-resolution tandem mass spectrometry.

Abstract excerpt

Accurate detection of point mutations in mitochondrial DNA (mtDNA) is crucial for diagnosing various mitochondrial disorders. In this study, we developed an ultra-high-performance liquid chromatography coupled with high-resolution tandem mass spectrometry (UHPLC-HRMS/MS) method for the direct, label-free identification and localization of single-nucleotide mutations using synthetic 20- and 49-mer oligonucleotides...

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