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Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression.
PLOS Genetics
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Tucker, EJ, Mimaki, M, Compton, AG, McKenzie, M, Ryan, MT, Thorburn, DR.
Next‐generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation.
Human Mutation
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McKenzie, M, Tucker, EJ, Compton, AG, Lazarou, M, George, C, Thorburn, DR, Ryan, MT.
Mutations in the Gene Encoding C8orf38 Block Complex I Assembly by Inhibiting Production of the Mitochondria-Encoded Subunit ND1.
Journal of Molecular Biology
414(3)
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Tucker, EJ, Hershman, SG, Köhrer, C, Belcher-Timme, CA, Patel, J, Goldberger, OA, Christodoulou, J, Silberstein, JM, McKenzie, M, Ryan, MT, et al.
Mutations in MTFMT Underlie a Human Disorder of Formylation Causing Impaired Mitochondrial Translation.
Cell Metabolism
14(3)
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Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.
European Journal of Human Genetics
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