NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment

Autor: Casey, Jillian P., Støve, Svein Isungset, McGorrian, Catherine, Galvin, Joseph, Blenski, Marina, Dunne, Aimee, Ennis, Sean, Brett, Francesca, King, Mary D., Arnesen, Thomas, Lynch, Sally Ann

Externí odkaz: https://hdl.handle.net/1956/12378

NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment.

Autor: Casey JP; Clinical Genetics, Temple Street Children's University Hospital, Temple Street, Dublin 1, Ireland.; UCD Academic Centre on Rare Diseases, School of Medicine and Medical Sciences, University College Dublin, Dublin 4, Ireland., Støve SI; Department of Molecular Biology, University of Bergen, Norway., McGorrian C; Department of Cardiology, Mater Misericordiae University Hospital, Eccles Street, Dublin 7, Ireland.; School of Medicine and Medical Sciences, University College Dublin, Dublin 4, Ireland., Galvin J; Department of Cardiology, Mater Misericordiae University Hospital, Eccles Street, Dublin 7, Ireland., Blenski M; Department of Molecular Biology, University of Bergen, Norway., Dunne A; UCD Academic Centre on Rare Diseases, School of Medicine and Medical Sciences, University College Dublin, Dublin 4, Ireland., Ennis S; UCD Academic Centre on Rare Diseases, School of Medicine and Medical Sciences, University College Dublin, Dublin 4, Ireland., Brett F; Department of Neuropathology, Beaumont Hospital, Dublin 9, Ireland., King MD; Department of Paediatric Neurology &Clinical Neurophysiology, Temple Street Children's University Hospital, Dublin 1, Ireland.; UCD Academic Centre on Rare Diseases, School of Medicine and Medical Sciences, University College Dublin, Dublin 4, Ireland., Arnesen T; Department of Molecular Biology, University of Bergen, Norway.; Department of Surgery, Haukeland University Hospital, Norway., Lynch SA; Clinical Genetics, Temple Street Children's University Hospital, Temple Street, Dublin 1, Ireland.; UCD Academic Centre on Rare Diseases, School of Medicine and Medical Sciences, University College Dublin, Dublin 4, Ireland.; Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland.

Publikováno v: Scientific reports [Sci Rep] 2015 Nov 02; Vol. 5, pp. 16022. Date of Electronic Publication: 2015 Nov 02.