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Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease.

Pubmed ID: 
18940309
Year: 
2008
Month: 
Oct
Volume: 
83
Issue: 
4
Citation: 
Sugiana C, Pagliarini DJ, McKenzie M, Kirby DM, Salemi R, Abu-Amero KK, Dahl HH, Hutchison WM, Vascotto KA, Smith SM, Newbold RF, Christodoulou J, Calvo S, Mootha VK, Ryan MT, Thorburn DR. Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease. American Journal of Human Genetics 83 (4) : 468 - 78(2008) PubMed