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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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Dettagli Bibliografici
Pubblicato in:Neurosciences (Riyadh)
Autori principali: Shen, Xiya, Du, Ailian
Natura: Artigo
Lingua:Inglês
Pubblicazione: Riyadh : Armed Forces Hospital 2021
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Accesso online: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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