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Updated: May 24, 2025

Studying Ribonucleotide Incorporation: Strand-specific Detection of Ribonucleotides in the Yeast Genome and Measuring Ribonucleotide-induced Mutagenesis
09:04

Studying Ribonucleotide Incorporation: Strand-specific Detection of Ribonucleotides in the Yeast Genome and Measuring Ribonucleotide-induced Mutagenesis

Published on: July 26, 2018

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一个新型ETFDH突变在一个有赖博夫拉反应多重乙-CoA脱酶缺乏症的患者中被发现

Yaotong Ou1, Yi Wen2, Xi Chen1

  • 1Department of Neurology, Guangzhou First People's Hospital; School of Medicine, South China University of Technology, Guangzhou, China.

Intractable & rare diseases research
|March 6, 2025
PubMed
概括

多重乙辅酶A脱酶缺乏症 (MADD) 是一种常见的脂质储存肌病,在一个中国女孩身上被诊断出一种新的ETFDH基因突变. рибофлавин治疗迅速改善了她的运动不耐受和肌肉软弱.

关键词:
在ETFDH基因中,麦德德是个疯狂的人.总理 总理 总理 总理在RML中,RML是RML.磁共振成像技术的使用

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