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Two novel mutations in PEO1 (Twinkle) gene associated with chronic external ophthalmoplegia()
Maintenance and replication of mitochondrial DNA require the concerted action of several factors encoded by nuclear genome. The mitochondrial helicase Twinkle is a key player of replisome machinery. Heterozygous mutations in its coding gene, PEO1, are associated with progressive external ophthalmopl...
Autores principales: | , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3158327/ https://www.ncbi.nlm.nih.gov/pubmed/21689831 http://dx.doi.org/10.1016/j.jns.2011.05.042 |