A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure

Authors: Pascale de Lonlay, Isabelle Valnot, Antoni Barrientos, Marina S. Gorbatyuk, Alexander Tzagoloff, Jan‐Willem Taanman, Emmanuel Benayoun, Dominique Chrétien, Noman Kadhom, Anne Lombès, Hélène Ogier de Baulny, Patrick Niaudet, Arnold Münnich, Pierre Rustin, Agnès Rötig - Nature Genetics 2001 cited by 318