Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis

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成果类型：

期刊论文

作者：

Wu, Teng-Hui;Peng, Jing;Yang, Li;Chen, Yan-Hui;Lu, Xiu-Lan;...

通讯作者：

He, Fang

作者机构：

[Yang, Li; Wu, Teng-Hui; Peng, Jing] Department of Pediatrics, Xiangya Hospital Central South University, 87 Xiangya Road, Changsha, 410008, Hunan, China

[Chen, Yan-Hui] Department of Pediatrics, Fujian Medical University Union Hospital, 29 Xinquan Road, Fuzhou, Fujian, China

[Lu, Xiu-Lan; Huang, Jiao-Tian] Department of Pediatric Intensive Care Unit, Hunan Children's Hospital, 86 Ziyuan Road, Changsha, Hunan, China

[You, Jie-Yu] Department of Gastroenterology and Nutrition, Hunan Children's Hospital, 86 Ziyuan Road, Changsha, Hunan, China

[Ou-Yang, Wen-Xian] Department of Hepatopathy, Hunan Children's Hospital, 86 Ziyuan Road, Changsha, Hunan, China

通讯机构：

[He, Fang] D

Department of Pediatrics, Xiangya Hospital Central South University, Changsha, China

语种：

英文

期刊：

Scientific Reports

ISSN：

2045-2322

年：

2023

卷：

期：

页码：

4193

DOI：

10.1038/s41598-023-31134-5

基金类别：

This work was supported by the National Natural Science Foundation of China (Grant number 82071462).

机构署名：

本校为第一机构

摘要：

Mitochondrial diseases (MDs) were a large group multisystem disorders, attributable in part to the dual genomic control. The advent of massively sequencing has improved diagnostic rates and speed, and was increasingly being used as a first-line diagnostic test. Paediatric patients (aged

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Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis

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