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Cameron J, Janer A, Levandovskiy V, MacKay N, Rouault T, Tong W, Ogilvie I, Shoubridge E, Robinson B. Mutations in Iron-Sulfur Cluster Scaffold Genes NFU1 and BOLA3 Cause a Fatal Deficiency of Multiple Respiratory Chain and 2-Oxoacid Dehydrogenase Enzymes. The American Journal of Human Genetics. 2011 Oct;89(4):486–95. doi: 10.1016/j.ajhg.2011.08.011. |