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Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome

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 Po...

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Detalles Bibliográficos
Autores principales:	Hoff, Kirsten E., DeBalsi, Karen L., Sanchez-Quintero, Maria J., Longley, Matthew J., Hirano, Michio, Naini, Ali B., Copeland, William C.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2018
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6114919/ https://www.ncbi.nlm.nih.gov/pubmed/30157269 http://dx.doi.org/10.1371/journal.pone.0203198

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