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COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA.
Jensson, Brynjar O; Hansdottir, Sif; Arnadottir, Gudny A; Sulem, Gerald; Kristjansson, Ragnar P; Oddsson, Asmundur; Benonisdottir, Stefania; Jonsson, Hakon; Helgason, Agnar; Saemundsdottir, Jona; Magnusson, Olafur T; Masson, Gisli; Thorisson, Gudmundur A; Jonasdottir, Adalbjorg; Jonasdottir, Aslaug; Sigurdsson, Asgeir; Jonsdottir, Ingileif; Petursdottir, Vigdis; Kristinsson, Jon R; Gudbjartsson, Daniel F; Thorsteinsdottir, Unnur; Arngrimsson, Reynir; Sulem, Patrick; Gudmundsson, Gunnar; Stefansson, Kari.
Afiliación
  • Jensson BO; deCODE Genetics/Amgen, Inc, Sturlugata 8, 101, Reykjavik, Iceland.
  • Hansdottir S; Department of Respiratory Medicine and Sleep, Landspitali University Hospital, Reykjavik, Iceland.
  • Arnadottir GA; deCODE Genetics/Amgen, Inc, Sturlugata 8, 101, Reykjavik, Iceland.
  • Sulem G; deCODE Genetics/Amgen, Inc, Sturlugata 8, 101, Reykjavik, Iceland.
  • Kristjansson RP; deCODE Genetics/Amgen, Inc, Sturlugata 8, 101, Reykjavik, Iceland.
  • Oddsson A; deCODE Genetics/Amgen, Inc, Sturlugata 8, 101, Reykjavik, Iceland.
  • Benonisdottir S; deCODE Genetics/Amgen, Inc, Sturlugata 8, 101, Reykjavik, Iceland.
  • Jonsson H; deCODE Genetics/Amgen, Inc, Sturlugata 8, 101, Reykjavik, Iceland.
  • Helgason A; deCODE Genetics/Amgen, Inc, Sturlugata 8, 101, Reykjavik, Iceland.
  • Saemundsdottir J; Department of Anthropology, University of Iceland, Reykjavik, Iceland.
  • Magnusson OT; 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.
  • 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.
  • Jonsdottir I; deCODE Genetics/Amgen, Inc, Sturlugata 8, 101, Reykjavik, Iceland.
  • Petursdottir V; deCODE Genetics/Amgen, Inc, Sturlugata 8, 101, Reykjavik, Iceland.
  • Kristinsson JR; Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
  • Gudbjartsson DF; Department of Pathology, Landspitali University Hospital, Reykjavik, Iceland.
  • Thorsteinsdottir U; Department of Pediatrics, Landspitali University Hospital, Reykjavik, Iceland.
  • Arngrimsson R; deCODE Genetics/Amgen, Inc, Sturlugata 8, 101, Reykjavik, Iceland.
  • Sulem P; School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland.
  • Gudmundsson G; deCODE Genetics/Amgen, Inc, Sturlugata 8, 101, Reykjavik, Iceland.
  • Stefansson K; Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
BMC Med Genet ; 18(1): 129, 2017 11 14.
Article en En | MEDLINE | ID: mdl-29137621
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Mutación Missense / Proteína Coatómero / Síndromes de Inmunodeficiencia Tipo de estudio: Diagnostic_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male País/Región como asunto: Europa Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Islandia
Texto completo
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PubMed Links
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Mutación Missense / Proteína Coatómero / Síndromes de Inmunodeficiencia Tipo de estudio: Diagnostic_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male País/Región como asunto: Europa Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Islandia