Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome

BACKGROUND: DNA polymerase γ (POLG) is the only known mitochondrial DNA (mtDNA) polymerase. It mediates mtDNA replication and base excision repair. Mutations in the POLG gene lead to reduction of functional mtDNA (mtDNA depletion and/or deletions) and are therefore predicted to result in defective o...

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Detalles Bibliográficos
Autores principales: Schaller, André, Hahn, Dagmar, Jackson, Christopher B, Kern, Ilse, Chardot, Christophe, Belli, Dominique C, Gallati, Sabina, Nuoffer, Jean-Marc
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3032677/
https://www.ncbi.nlm.nih.gov/pubmed/21235791
http://dx.doi.org/10.1186/1471-2377-11-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3032677/
https://www.ncbi.nlm.nih.gov/pubmed/21235791
http://dx.doi.org/10.1186/1471-2377-11-4

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