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Results: 1-2 |
Results: 2
Mutations in Iron-Sulfur Cluster Scaffold Genes NFU1 and BOLA3 Cause a Fatal Deficiency of Multiple Respiratory Chain and 2-Oxoacid Dehydrogenase Enzymes
Authors: Cameron, Jessie M. Janer, Alexandre Levandovskiy, Valeriy MacKay, Nevena
Citation: M. Cameron, Jessie et al., Mutations in Iron-Sulfur Cluster Scaffold Genes NFU1 and BOLA3 Cause a Fatal Deficiency of Multiple Respiratory Chain and 2-Oxoacid Dehydrogenase Enzymes, American journal of human genetics (Online) AJHG , 89(4), 2011, pp. 486-495
An RMND1 Mutation Causes Encephalopathy Associated with Multiple Oxidative Phosphorylation Complex Deficiencies and a Mitochondrial Translation Defect
Authors: Janer, Alexandre Antonicka, Hana Lalonde, Emilie
Citation: Janer, Alexandre et al., An RMND1 Mutation Causes Encephalopathy Associated with Multiple Oxidative Phosphorylation Complex Deficiencies and a Mitochondrial Translation Defect, American journal of human genetics (Online) AJHG , 91(4), 2012, pp. 737-743
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