Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree
| Authors | Emperador Sonia, Habbane Mouna, López-Gallardo Ester, del Rio Alejandro, Llobet Laura, Mateo Javier, Sanz-López Ana María, Fernández-García María José, Sánchez-Tocino Hortensia, Benbunan-Ferreiro Sol, Calabuig-Goena María, Narvaez-Palazón Carlos, Fernández-Vega Beatriz, González-Iglesias Hector, Urreizti Roser, Artuch Rafael, Pacheu-Grau David, Bayona-Bafaluy Pilar, Montoya Julio, Ruiz-Pesini Eduardo |
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| Journal | Orphanet Journal of Rare Diseases |
| Publication Date | 2024-04-06 |
| DOI | 10.1186/s13023-024-03165-2 |