线粒体DNA耗竭综合征1例临床特点和DGUOK基因突变分析
Clinical features and DGUOK mutations of an infant with mitochondrial DNA depletion syndrome

DOI: 10.7499/j.issn.1008-8830.2016.06.015

Keywords: 线粒体DNA耗竭综合征,外显子捕获测序,DGUOK基因,基因突变,婴儿,
Mitochondrial DNA depletion syndrome,Targeted Exome Sequencing,DGUOK gene,Gene mutation,Infant

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