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Mitochondrial tRNA(Ala) 5601C>T variant may affect the clinical expression of the LHON-related ND4 11778G>A mutation in a family

Certain mutations in mitochondrial DNA (mtDNA) are associated with Leber's hereditary optic neuropathy (LHON). In particular, the well-known NADH dehydrogenase 4 (ND4) m.11778G>A mutation is one of the most common LHON-associated primary mutations worldwide. However, how specific mtDNA mutat...

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Dettagli Bibliografici
Pubblicato in:Mol Med Rep
Autori principali: Ding, Yu, Ye, Yu-Feng, Li, Mei-Ya, Xia, Bo-Hou, Leng, Jian-Hang
Natura: Artigo
Lingua:Inglês
Pubblicazione: D.A. Spandidos 2020
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6896293/
https://ncbi.nlm.nih.gov/pubmed/31939618
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2019.10844
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