A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency

A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency

European Journal of Human Genetics advance online publication, October 8 2014.
doi:10.1038/ejhg.2014.214

Authors: Monika Oláhová, Tobias B Haack, Charlotte L Alston, Jessica AC Houghton, Langping He, Andrew AM Morris, Garry K Brown, Robert McFarland, Zofia MA Chrzanowska-Lightowlers, Robert N Lightowlers, Holger Prokisch & Robert W Taylor

Source: European Journal of Human Genetics - October 8, 2014 Category: Genetics & Stem Cells Authors: Monika OláhováTobias B HaackCharlotte L AlstonJessica AC HoughtonLangping HeAndrew AM MorrisGarry K BrownRobert McFarlandZofia MA Chrzanowska-LightowlersRobert N LightowlersHolger ProkischRobert W Taylor Source Type: research