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ab109876 has been referenced in 7 publications.
- Calvo SE et al. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Sci Transl Med 4:118ra10 (2012).
- Fassone E et al. FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy. Hum Mol Genet 19:4837-47 (2010).
- Calvo SE et al. High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. Nat Genet 42:851-8 (2010).
- Marusich MF et al. Novel antibody-based strategies for the rapid diagnosis of mitochondrial disease and dysfunction. Int J Biochem Cell Biol 41:2081-8 (2009).
- Baughman JM et al. A computational screen for regulators of oxidative phosphorylation implicates SLIRP in mitochondrial RNA homeostasis. PLoS Genet 5:e1000590 (2009).
- Willis JH et al. Isolated deficiencies of OXPHOS complexes I and IV are identified accurately and quickly by simple enzyme activity immunocapture assays. Biochim Biophys Acta 1787:533-8 (2009).
- Sugiana C et al. Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease. Am J Hum Genet 83:468-78 (2008).