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Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report

BACKGROUND: Although Mitochondrial DNA depletion syndrome (MDS) can be classified into three forms: myopathic, encephalomyopathic and hepatocerebral form, it is difficult to identify its form due to its clinical heterogeneity. Therefore, it is very important to conduct molecular genetic analysis on...

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Detalles Bibliográficos
Autores principales:	Li, Xianghong, Li, Liangshan, Sun, Yaqi, Lv, Fuyan, Zhang, Guoqing, Liu, Wenmiao, Zhang, Meiyan, Jiang, Hong, Liu, Shiguo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6712797/ https://www.ncbi.nlm.nih.gov/pubmed/31455269 http://dx.doi.org/10.1186/s12881-019-0875-y

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