Uniparental isodisomy as a cause of mitochondrial complex I respiratory chain disorder due to a novel splicing NDUFS4 mutation

Publication date: Available online 16 October 2020Source: Molecular Genetics and MetabolismAuthor(s): Adrián González-Quintana, María J. Trujillo-Tiebas, Ana L. Fernández-Perrone, Alberto Blázquez, Alejandro Lucia, María Morán, Cristina Ugalde, Joaquín Arenas, Carmen Ayuso, Miguel A. Martín
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research