Cargando…
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...
| Autores principales: | , , , , , , , |
|---|---|
| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2011
|
| Materias: | |
| 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 |