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Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber’s Hereditary Optic Neuropathy

BACKGROUND: Leber’s hereditary optic neuropathy (LHON) is a maternally inherited blinding disorder, which in over 90% of cases is due to one of three primary mitochondrial DNA (mtDNA) point mutations (m.11778G>A, m.3460G>A and m.14484T>C, respectively in MT-ND4, MT-ND1 and MT-ND6 genes). Ho...

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Detalles Bibliográficos
Autores principales:	Achilli, Alessandro, Iommarini, Luisa, Olivieri, Anna, Pala, Maria, Hooshiar Kashani, Baharak, Reynier, Pascal, La Morgia, Chiara, Valentino, Maria Lucia, Liguori, Rocco, Pizza, Fabio, Barboni, Piero, Sadun, Federico, De Negri, Anna Maria, Zeviani, Massimo, Dollfus, Helene, Moulignier, Antoine, Ducos, Ghislaine, Orssaud, Christophe, Bonneau, Dominique, Procaccio, Vincent, Leo-Kottler, Beate, Fauser, Sascha, Wissinger, Bernd, Amati-Bonneau, Patrizia, Torroni, Antonio, Carelli, Valerio
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2012
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3411744/ https://www.ncbi.nlm.nih.gov/pubmed/22879922 http://dx.doi.org/10.1371/journal.pone.0042242

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