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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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Publicat a:Metab Brain Dis
Autors principals: Piotrowska-Nowak, Agnieszka, Krawczyński, Maciej R., Kosior-Jarecka, Ewa, Ambroziak, Anna M., Korwin, Magdalena, Ołdak, Monika, Tońska, Katarzyna, Bartnik, Ewa
Format: Artigo
Idioma:Inglês
Publicat: Springer US 2020
Matèries:
Accés en línia: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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