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Updated: Jan 15, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
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在中国儿科患者中,基因型与表型的相关性与单一的大规模线粒体DNA删除障碍有关

Jun Wang1, Minhan Song1, Zhimei Liu1

  • 1Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.

Clinical genetics
|October 11, 2025
PubMed
概括

这项研究表明,中国儿童的单个大规模线粒体DNA删除 (SLSMD) 往往存在多器官问题和新的遗传变异,而不仅仅是常见的4977bp删除.

关键词:
在 KSS KSS 中.线粒体疾病是线粒体疾病.我们的mtDNA mtDNA单一的大规模删除.

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