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The nuclear background influences the penetrance of the near-homoplasmic m.1630 A>G MELAS variant in a symptomatic proband and asymptomatic mother
In this study, we report the metabolic consequences of the m.1630 A>G variant in fibroblasts from the symptomatic proband affected with the mitochondrial encephalomyopathy lactic acidosis and stroke-like episode Syndrome and her asymptomatic mother. By long-range PCR followed by massively paralle...
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| Publicado no: | Mol Genet Metab |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6773428/ https://ncbi.nlm.nih.gov/pubmed/30709774 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2019.01.022 |
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