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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...
Tallennettuna:
| Päätekijät: | , , , , , , , |
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| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
BioMed Central
2011
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3032677/ https://ncbi.nlm.nih.gov/pubmed/21235791 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2377-11-4 |
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