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

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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Bibliographic Details
Main Authors:	Kirsten E Hoff, Karen L DeBalsi, Maria J Sanchez-Quintero, Matthew J Longley, Michio Hirano, Ali B Naini, William C Copeland
Format:	Article
Language:	English
Published:	Public Library of Science (PLoS) 2018-01-01
Series:	PLoS ONE
Online Access:	http://europepmc.org/articles/PMC6114919?pdf=render

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