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Genetic and clinical features of Chinese patients with mitochondrial ataxia identified by targeted next‐generation sequencing

AIM: To characterize the mutations in mitochondrial DNA (mtDNA) and mitochondrion‐related nuclear genes (nDNA), and clinical features in Chinese patients with mitochondrial ataxia. METHODS: Targeted next‐generation sequencing (NGS) technology was performed to screen the whole mtDNA sequence and nDNA...

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Detalhes bibliográficos
Publicado no:CNS Neurosci Ther
Main Authors: Dong, Hai‐Lin, Ma, Yin, Li, Quan‐Fu, Du, Yi‐Chu, Yang, Lu, Chen, Sheng, Wu, Zhi‐Ying
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6436592/
https://ncbi.nlm.nih.gov/pubmed/29756269
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cns.12972
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