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The establishment of a molecular diagnostic platform for mitochondrial diseases: From conventional to next-generation sequencing

22 Jul 2024

Abstract excerpt

BACKGROUND: The aim of this study was to create a molecular diagnostic platform and establish a diagnostic pipeline for patients highly suspected of mitochondrial disorders. The effectiveness of three methods, namely, traditional restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR), Sanger sequencing for hotspot detection and whole mitochondrial DNA (mtDNA), and third-generation...

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PMID: 39048080
DOI: 10.1016/j.bj.2024.100770

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