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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...
Autores principales: | Piotrowska-Nowak, Agnieszka, Krawczyński, Maciej R., Kosior-Jarecka, Ewa, Ambroziak, Anna M., Korwin, Magdalena, Ołdak, Monika, Tońska, Katarzyna, Bartnik, Ewa |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer US
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7584531/ https://www.ncbi.nlm.nih.gov/pubmed/32740724 http://dx.doi.org/10.1007/s11011-020-00605-3 |
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