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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...
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| Publicado no: | Neurosciences (Riyadh) |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Riyadh : Armed Forces Hospital
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8024137/ https://ncbi.nlm.nih.gov/pubmed/33814365 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.17712/nsj.2021.2.20200145 |
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