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Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice
Defects of mitochondrial DNA (mtDNA) maintenance have recently been associated with inherited neurodegenerative and muscle diseases and the aging process. Twinkle is a nuclear-encoded mtDNA helicase, dominant mutations of which cause adult-onset progressive external ophthalmoplegia (PEO) with multip...
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Κύριοι συγγραφείς: | , , , , , , , , |
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Μορφή: | Artigo |
Γλώσσα: | Inglês |
Έκδοση: |
National Academy of Sciences
2005
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Θέματα: | |
Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1308896/ https://ncbi.nlm.nih.gov/pubmed/16301523 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0505551102 |
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