Your browser doesn't support javascript.
loading
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype.
Alston, Charlotte L; Howard, Caoimhe; Oláhová, Monika; Hardy, Steven A; He, Langping; Murray, Philip G; O'Sullivan, Siobhan; Doherty, Gary; Shield, Julian P H; Hargreaves, Iain P; Monavari, Ardeshir A; Knerr, Ina; McCarthy, Peter; Morris, Andrew A M; Thorburn, David R; Prokisch, Holger; Clayton, Peter E; McFarland, Robert; Hughes, Joanne; Crushell, Ellen; Taylor, Robert W.
Afiliação
  • Alston CL; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
  • Howard C; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland.
  • Oláhová M; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
  • Hardy SA; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
  • He L; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
  • Murray PG; Centre for Paediatrics and Child Health, Institute of Human Development, Faculty of Medical & Human Sciences, University of Manchester, & Manchester Academic Health Science Centre, Manchester, UK.
  • O'Sullivan S; Department of Metabolic Paediatrics, Royal Hospital for Sick Children, Belfast, UK.
  • Doherty G; Department of Metabolic Paediatrics, Royal Hospital for Sick Children, Belfast, UK.
  • Shield JP; University of Bristol and Bristol Royal Hospital for Children, Bristol, UK.
  • Hargreaves IP; Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.
  • Monavari AA; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland.
  • Knerr I; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland.
  • McCarthy P; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland.
  • Morris AA; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
  • Thorburn DR; Department of Paediatrics, The Royal Children's Hospital, Murdoch Children's Research Institute, University of Melbourne, Parkville, Australia.
  • Prokisch H; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Munich, Germany.
  • Clayton PE; Centre for Paediatrics and Child Health, Institute of Human Development, Faculty of Medical & Human Sciences, University of Manchester, & Manchester Academic Health Science Centre, Manchester, UK.
  • McFarland R; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
  • Hughes J; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland.
  • Crushell E; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland.
  • Taylor RW; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
J Med Genet ; 53(9): 634-41, 2016 09.
Article em En | MEDLINE | ID: mdl-27091925

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Mitocondriais / Complexo I de Transporte de Elétrons / Nanismo / Mitocôndrias / Mutação Tipo de estudo: Etiology_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Med Genet Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Reino Unido

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Mitocondriais / Complexo I de Transporte de Elétrons / Nanismo / Mitocôndrias / Mutação Tipo de estudo: Etiology_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Med Genet Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Reino Unido