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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Detalhes bibliográficos
Publicado no:J Clin Med
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: MDPI 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6723710/
https://ncbi.nlm.nih.gov/pubmed/31434271
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/jcm8081262
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