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Biochemical analysis of the G517V POLG variant reveals wild-type like activity
The c.1550 g→t mutation in the POLG gene causing the G517V substitution has been reported by many groups to be associated with a variety of mitochondrial diseases, including autosomal dominant and recessive forms of ataxia neuropathy, myopathy and microcephaly, progressive external ophthalmoplegia,...
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| Autors principals: | , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2011
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3206148/ https://ncbi.nlm.nih.gov/pubmed/21856450 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mito.2011.08.003 |
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