Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree
在一个大型的莱伯遗传性视神经病变家系中鉴定和表征一种新的致病突变
期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-024-03165-2
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
