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Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA
Autosomal dominant and/or recessive progressive external ophthalmoplegia (ad/arPEO) is associated with mtDNA mutagenesis. It can be caused by mutations in three nuclear genes, encoding the adenine nucleotide translocator 1, the mitochondrial helicase Twinkle or DNA polymerase γ (POLG). How mutations...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2004
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC434440/ https://ncbi.nlm.nih.gov/pubmed/15181170 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkh634 |
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