Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrom...
Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome
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United States: Public Library of Science
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Language
English
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Publisher
United States: Public Library of Science
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Contents
Mutations in mitochondrial DNA (mtDNA) have been linked to a variety of metabolic, neurological and muscular diseases which can present at any time throughout life. MtDNA is replicated by DNA polymerase gamma (Pol γ), twinkle helicase and mitochondrial single-stranded binding protein (mtSSB). The Pol γ holoenzyme is a heterotrimer consisting of the...
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Full title
Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome
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TN_cdi_plos_journals_2096651774
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2096651774
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ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0203198
