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Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly.
Friederich MW, Erdogan AJ, Coughlin CR 2nd, Elos MT, Jiang H, O'Rourke CP, Lovell MA, Wartchow E, Gowan K, Chatfield KC, Chick WS, Spector EB, Van Hove JLK, Riemer J. Friederich MW, et al. Hum Mol Genet. 2017 Feb 15;26(4):702-716. doi: 10.1093/hmg/ddw431. Hum Mol Genet. 2017. PMID: 28040730 Free PMC article.
A 7-year-old with pulmonary hypertension.
Olin J, Abman S, Grady R, Ivy D, Lovell M, Partrick D, Balasubramaniam V. Olin J, et al. Among authors: lovell m. BMJ Case Rep. 2011;2011:bcr0220113843. doi: 10.1136/bcr.02.2011.3843. Epub 2011 Apr 20. BMJ Case Rep. 2011. PMID: 21897452 Free PMC article.
653 results