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Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.
Arnadottir, Gudny A; Jensson, Brynjar O; Marelsson, Sigurdur E; Sulem, Gerald; Oddsson, Asmundur; Kristjansson, Ragnar P; Benonisdottir, Stefania; Gudjonsson, Sigurjon A; Masson, Gisli; Thorisson, Gudmundur A; Saemundsdottir, Jona; Magnusson, Olafur Th; Jonasdottir, Adalbjorg; Jonasdottir, Aslaug; Sigurdsson, Asgeir; Gudbjartsson, Daniel F; Thorsteinsdottir, Unnur; Arngrimsson, Reynir; Sulem, Patrick; Stefansson, Kari.
Afiliação
  • Arnadottir GA; deCODE Genetics/Amgen, Inc., Sturlugata 8, 101, Reykjavik, Iceland.
  • Jensson BO; deCODE Genetics/Amgen, Inc., Sturlugata 8, 101, Reykjavik, Iceland.
  • Marelsson SE; Department of Pediatrics, Landspitali University Hospital, Reykjavik, Iceland.
  • Sulem G; deCODE Genetics/Amgen, Inc., Sturlugata 8, 101, Reykjavik, Iceland.
  • Oddsson A; deCODE Genetics/Amgen, Inc., Sturlugata 8, 101, Reykjavik, Iceland.
  • Kristjansson RP; deCODE Genetics/Amgen, Inc., Sturlugata 8, 101, Reykjavik, Iceland.
  • Benonisdottir S; deCODE Genetics/Amgen, Inc., Sturlugata 8, 101, Reykjavik, Iceland.
  • Gudjonsson SA; deCODE Genetics/Amgen, Inc., Sturlugata 8, 101, Reykjavik, Iceland.
  • Masson G; deCODE Genetics/Amgen, Inc., Sturlugata 8, 101, Reykjavik, Iceland.
  • Thorisson GA; deCODE Genetics/Amgen, Inc., Sturlugata 8, 101, Reykjavik, Iceland.
  • Saemundsdottir J; deCODE Genetics/Amgen, Inc., Sturlugata 8, 101, Reykjavik, Iceland.
  • Magnusson OT; deCODE Genetics/Amgen, Inc., Sturlugata 8, 101, Reykjavik, Iceland.
  • Jonasdottir A; deCODE Genetics/Amgen, Inc., Sturlugata 8, 101, Reykjavik, Iceland.
  • Jonasdottir A; deCODE Genetics/Amgen, Inc., Sturlugata 8, 101, Reykjavik, Iceland.
  • Sigurdsson A; deCODE Genetics/Amgen, Inc., Sturlugata 8, 101, Reykjavik, Iceland.
  • Gudbjartsson DF; deCODE Genetics/Amgen, Inc., Sturlugata 8, 101, Reykjavik, Iceland.
  • Thorsteinsdottir U; School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland.
  • Arngrimsson R; deCODE Genetics/Amgen, Inc., Sturlugata 8, 101, Reykjavik, Iceland.
  • Sulem P; Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
  • Stefansson K; Department of Genetics and Molecular Medicine, Landspitali University Hospital, Reykjavik, Iceland.
BMC Med Genet ; 18(1): 103, 2017 10 02.
Article em En | MEDLINE | ID: mdl-28965491
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant Idioma: En Ano de publicação: 2017 Tipo de documento: Article