Disease Mutations in the Human Mitochondrial DNA Polymerase Thumb Subdomain Impart Severe Defects in Mitochondrial DNA Replication

Forty-five different point mutations in POLG, the gene encoding the catalytic subunit of the human mitochondrial DNA polymerase (pol γ), cause the early onset mitochondrial DNA depletion disorder, Alpers syndrome. Sequence analysis of the C-terminal polymerase region of pol γ revealed a cluster of f...

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Hauptverfasser: Kasiviswanathan, Rajesh, Longley, Matthew J., Chan, Sherine S. L., Copeland, William C.
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society for Biochemistry and Molecular Biology 2009
Schlagworte:
DNA: Replication, Repair, Recombination, and Chromosome Dynamics
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2740576/
https://ncbi.nlm.nih.gov/pubmed/19478085
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M109.011940
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