Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease

Autor: Boczonadi, Veronika, King, Martin S., Smith, Anthony C., Olahova, Monika, Bansagi, Boglarka, Roos, Andreas, Eyassu, Filmon, Borchers, Christoph, Ramesh, Venkateswaran, Lochmüller, Hanns, Polvikoski, Tuomo, Whittaker, Roger G., Pyle, Angela, Griffin, Helen, Taylor, Robert W., Chinnery, Patrick F., Robinson, Alan J., Kunji, Edmund R.S., Horvath, Rita
Zdroj: In Genetics in Medicine October 2018 20(10):1224-1235
Databáze: ScienceDirect