A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

Charlotte L. Alston, Caoimhe Howard, Monika Oláhová, Steven A. Hardy, Langping He, Philip G. Murray, Siobhan O'Sullivan, Gary Doherty, Julian P Hamilton-Shield, Iain P. Hargreaves, Ardeshir A. Monavari, Ina Knerr, Peter W McCarthy, Andrew A M Morris, David R. Thorburn, Holger Prokisch, Peter Clayton, Robert McFarland, Joanne Hughes, Ellen CrushellRobert W. Taylor*

*Corresponding author for this work

Research output: Contribution to journalArticle (Academic Journal)peer-review

30 Citations (Scopus)
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Biochemistry, Genetics and Molecular Biology