Identification and Characterization of New Variants in FOXRED1 Gene Expands the Clinical Spectrum Associated with Mitochondrial Complex I Deficiency

Complex I (nicotinamide adenine dinucleotide (NADH): ubiquinone oxidoreductase) is the largest complex of the mitochondrial oxidative phosphorylation system (OXPHOS) system. Forty-four subunits encoded in nuclear and mitochondrial genomes compose this multiprotein complex, its assembly being a highl...

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Detalles Bibliográficos
Autores principales: Barbosa-Gouveia, Sofia, González-Vioque, Emiliano, Borges, Filipa, Gutiérrez-Solana, Luis, Wintjes, Liesbeth, Kappen, Antonia, van den Heuvel, Lambert, Leis, Rosaura, Rodenburg, Richard, Couce, María Luz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6723710/
https://www.ncbi.nlm.nih.gov/pubmed/31434271
http://dx.doi.org/10.3390/jcm8081262

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6723710/
https://www.ncbi.nlm.nih.gov/pubmed/31434271
http://dx.doi.org/10.3390/jcm8081262

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