Molecular and biochemical characterisation of a novel mutation in <it>POLG </it>associated with Alpers syndrome
<p>Abstract</p> <p>Background</p> <p>DNA polymerase γ (<it>POLG</it>) is the only known mitochondrial DNA (mtDNA) polymerase. It mediates mtDNA replication and base excision repair. Mutations in the <it>POLG </it>gene lead to reduction of functio...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2011-01-01
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| Series: | BMC Neurology |
| Online Access: | http://www.biomedcentral.com/1471-2377/11/4 |