Loss of function mutation in a mitochondrial chaperone protein leading to dyregulated ROS production, and autoinflammatory disease in a single kindred

Standing, A., Eleftheriou, D., Paisan-Ruiz, C., Rowcenzio, D., Hong, Y., Omoyinmi, E., … Brogan, P. (2015). Loss of function mutation in a mitochondrial chaperone protein leading to dyregulated ROS production, and autoinflammatory disease in a single kindred. Pediatric Rheumatology, 13(1). https://doi.org/10.1186/1546-0096-13-S1-O1