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PURIFICATION AND FUNCTIONAL CHARACTERIZATION OF HUMAN MITOCHONDRIAL DNA POLYMERASE GAMMA HARBORING DISEASE MUTATIONS
More than 150 different point mutations in POLG, the gene encoding the human mitochondrial DNA polymerase γ (pol γ), cause a broad spectrum of childhood and adult onset diseases like Alpers syndrome, Ataxia-Neuropathy syndrome and progressive external ophthalmoplegia. These disease mutations can aff...
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| Autors principals: | , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2010
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2901396/ https://ncbi.nlm.nih.gov/pubmed/20176107 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymeth.2010.02.015 |
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