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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書誌詳細

出版年:	Nucleic Acids Res
主要な著者:	Wanrooij, Sjoerd, Luoma, Petri, van Goethem, Gert, van Broeckhoven, Christine, Suomalainen, Anu, Spelbrink, Johannes N.
フォーマット:	Artigo
言語:	Inglês
出版事項:	Oxford University Press 2004
主題:	Articles
オンライン･アクセス:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC434440/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/15181170/ https://ncbi.nlm.nih.govhttps://doi.org/10.1093/nar/gkh634
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