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线粒体DNA耗竭综合征1例临床特点和DGUOK基因突变分析
The aim of this study was to investigate the clinical features and DGUOK gene mutations of an infant with mitochondrial DNA depletion syndrome (MDS). The patient (more than 7 months old) manifested as hepatosplenomegaly, abnormal liver function, nystagmus and psychomotor retardation. Genetic DNA was...
Gardado en:
| Publicado en: | Zhongguo Dang Dai Er Ke Za Zhi |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
中国当代儿科杂志编辑部
2016
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| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7389075/ https://ncbi.nlm.nih.gov/pubmed/27324545 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2016.06.015 |
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