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Mitochondrial genome variation in male LHON patients with the m.11778G > A mutation

Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder with symptoms limited to a single tissue, optic nerve, resulting in vision loss. In the majority of cases it is caused by one of three point mutations in mitochondrial DNA (mtDNA) but their presence is not sufficient for disease de...

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Dettagli Bibliografici
Pubblicato in:Metab Brain Dis
Autori principali: Piotrowska-Nowak, Agnieszka, Krawczyński, Maciej R., Kosior-Jarecka, Ewa, Ambroziak, Anna M., Korwin, Magdalena, Ołdak, Monika, Tońska, Katarzyna, Bartnik, Ewa
Natura: Artigo
Lingua:Inglês
Pubblicazione: Springer US 2020
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7584531/
https://ncbi.nlm.nih.gov/pubmed/32740724
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s11011-020-00605-3
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