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线粒体疾病诊断的组合线粒体-核 (MITO-NUCLEAR) 分析:单步NGS方法的验证和实施

Ferdinando Barretta1,2, Fabiana Uomo1, Filomena Caldora1

  • 1Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy.

Genes
|May 27, 2023
PubMed
概括

一种新的MITO-NUCLEAR测定使 mitochondrial 疾病 (MDs) 的线粒体和核DNA中的同时遗传变异识别成为可能. 这种简化方法提高了患者的诊断效率和成本效益.

关键词:
虚构核的 - - 核的线粒体和核DNA的组合测序.线粒体和核疾病小组组线粒体疾病是线粒体疾病.我们的mtDNA mtDNA下一代测序 (NGS) 是指下一代的测序.核基因 核基因 核基因

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