Periodical
The establishment of a molecular diagnostic platform for mitochondrial diseases: from conventional to next-generation sequencing
| العنوان: | The establishment of a molecular diagnostic platform for mitochondrial diseases: from conventional to next-generation sequencing |
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| المؤلفون: | Tsai, Ni-Chin, Liou, Chai-Wai, Cheng, Yin-Hua, Lien, Hao-Ting, Lin, Tzu-Ling, Lin, Tsu-Kung, Lan, Min-Yu, Hung, Pi-Lien, Wang, Tzu-Jou, Lee, Chen-Hao, Liang, Yi-Chih, Lan, Kuo-Chung |
| المصدر: | Biomedical Journal; 20240101, Issue: Preprints |
| مستخلص: | 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 (Nanopore) whole mtDNA sequencing, will be compared in diagnosing patients with suspected primary mitochondrial diseases (PMDs). The strengths and limitations of different methods are also discussed. |
| قاعدة البيانات: | Supplemental Index |
Full Text Finder | تدمد: | 23194170 23202890 |
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| DOI: | 10.1016/j.bj.2024.100770 |