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Novel mutations in DNA2 associated with myopathy and mtDNA instability

The maintenance of mitochondrial DNA (mtDNA) relies on proteins encoded by nuclear genes. Mutations in their coding sequences result in heterogenous clinical presentations featuring mtDNA instability in affected tissues. DNA2 is a multi‐catalytic protein involved in the removal of single strand DNA...

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Dades bibliogràfiques
Publicat a:Ann Clin Transl Neurol
Autors principals: Ronchi, Dario, Liu, Changwei, Caporali, Leonardo, Piga, Daniela, Li, Hongzhi, Tagliavini, Francesca, Valentino, Maria Lucia, Ferrò, Maria Teresa, Bini, Paola, Zheng, Li, Carelli, Valerio, Shen, Binghui, Comi, Giacomo Pietro
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2019
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6764641/
https://ncbi.nlm.nih.gov/pubmed/31478350
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.50888
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