Your browser doesn't support javascript.
loading
A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype.
Kojic, Marija; Abbassi, Nour E H; Lin, Ting-Yu; Jones, Alun; Wakeling, Emma L; Clement, Emma; Nakou, Vasiliki; Singleton, Matthew; Dobosz, Dominika; Kaliakatsos, Marios; Glatt, Sebastian; Wainwright, Brandon J.
  • Kojic M; Frazer Institute, The University of Queensland, Woolloongabba, QLD, 4102, Australia.
  • Abbassi NEH; Malopolska Centre of Biotechnology, Jagiellonian University, Krakow, Poland.
  • Lin TY; Postgraduate School of Molecular Medicine, Medical University of Warsaw, 02-091, Warsaw, Poland.
  • Jones A; Malopolska Centre of Biotechnology, Jagiellonian University, Krakow, Poland.
  • Wakeling EL; Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, Australia.
  • Clement E; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Nakou V; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Singleton M; Paediatric Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust/ University College London, London, UK.
  • Dobosz D; Frazer Institute, The University of Queensland, Woolloongabba, QLD, 4102, Australia.
  • Kaliakatsos M; Malopolska Centre of Biotechnology, Jagiellonian University, Krakow, Poland.
  • Glatt S; Paediatric Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust/ University College London, London, UK. Marios.Kaliakatsos@gosh.nhs.uk.
  • Wainwright BJ; Malopolska Centre of Biotechnology, Jagiellonian University, Krakow, Poland. sebastian.glatt@uj.edu.pl.
J Hum Genet ; 68(7): 445-453, 2023 Jul.
Article en En | MEDLINE | ID: mdl-36864284
Asunto(s)
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Mutación Missense / Factores de Elongación Transcripcional / Trastornos del Neurodesarrollo Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Mutación Missense / Factores de Elongación Transcripcional / Trastornos del Neurodesarrollo Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article