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Functional analysis of H. sapiens DNA polymerase γ spacer mutation W748S with and without common variant E1143G
Mitochondrial DNA polymerase, POLG, is the sole DNA polymerase found in animal mitochondria. In humans, POLGα W748S in cis with an E1143G mutation has been linked to a new type of recessive ataxia, MIRAS, which is the most common inherited ataxia in Finland. We investigated the biochemical phenotype...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2010
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2860656/ https://ncbi.nlm.nih.gov/pubmed/20153822 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbadis.2010.02.003 |
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