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...

Descripción completa

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

Internet

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

Ejemplares similares