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Cédric Meersseman Véronique Léjard Emmanuelle Rebours Mekki Boussaha Abderrahman Maftah Daniel Petit Dominique Rocha 《Gene》2014
TWINKLE is a mitochondrial DNA helicase playing an important role in mitochondrial DNA replication. In human, mutations in this gene cause progressive external ophtalmoplegia and mitochondrial DNA depletion syndrome-7. TWINKLE is well conserved among multicellular eukaryotes and is believed to be a key regulator of mitochondrial DNA copy number in mammals. 相似文献