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Uniparental isodisomy as a cause of mitochondrial complex I respiratory chain disorder due to a novel splicing NDUFS4 mutation
González-Quintana, Adrián, Trujillo-Tiebas, MarÃa J., Fernández-Perrone, Ana L., Blázquez, Alberto, Lucia, Alejandro, Morán, MarÃa, Ugalde, Cristina, Arenas, JoaquÃn, Ayuso, Carmen, MartÃn, MJournal:
Molecular Genetics and Metabolism
DOI:
10.1016/j.ymgme.2020.10.008
Date:
October, 2020
File:
PDF, 2.69 MB
2020