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The Mitochondrial m.3243A>G Mutation on the Dish, Lessons from In Vitro Models
The m.3243A>G mutation in the tRNA Leu(UUR) gene (MT-TL1) is one of the most common pathogenic point mutations in human mtDNA. Patient symptoms vary widely and the severity of the disease ranges from asymptomatic to lethal. The reason for the high heterogeneity of m.3243A>G-associated disease...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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MDPI
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10487608/ https://www.ncbi.nlm.nih.gov/pubmed/37686280 http://dx.doi.org/10.3390/ijms241713478 |