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Updated: Jun 30, 2025

Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase COX/SDH Double-labeling Histochemistry
06:53

Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase COX/SDH Double-labeling Histochemistry

Published on: November 23, 2011

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在GTPBP3中发生的一种新型突变,通过影响mRNA前拼接,导致联合氧化酸化缺陷23

Yanjun Wang1, Juan He1, Fangling Dong1

  • 1Pediatric Intensive Care Unit, Kunming Children's Hospital, Children's Hospital Affiliated to Kunming Medical University, Kunming, China.

Heliyon
|March 22, 2024
PubMed
概括

联合氧化酸化缺陷23 (COXPD23) 是一种罕见的线粒体疾病. 这项研究在患者中发现了新的GTPBP3突变,扩大了对COXPD23的知识.

关键词:
根据COXPD23的规定.一个微型的基因线粒体疾病是线粒体疾病.新的 GTPBP3 突变整个外基因组的测序.

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