COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA

BACKGROUND: Rare missense mutations in the gene encoding coatomer subunit alpha (COPA) have recently been shown to cause autoimmune interstitial lung, joint and kidney disease, also known as COPA syndrome, under a dominant mode of inheritance. CASE PRESENTATION: Here we describe an Icelandic family...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5686906/
https://www.ncbi.nlm.nih.gov/pubmed/29137621
http://dx.doi.org/10.1186/s12881-017-0490-8

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