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The non-syndromic clinical spectrums of mtDNA 3243A>G mutation
The m.3243A >G mutation in the tRNA Leu (UUR) gene (MT-TL1) of the mitochondrial DNA is the most widely seen pathogenic mtDNA mutation which has major phenotypic variations. The clinical phenotype involves various organs such as the brain and nerves, skeletal muscles, heart, endocrine system, gas...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Riyadh : Armed Forces Hospital
2021
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8024137/ https://www.ncbi.nlm.nih.gov/pubmed/33814365 http://dx.doi.org/10.17712/nsj.2021.2.20200145 |