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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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5686906/
https://ncbi.nlm.nih.gov/pubmed/29137621
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0490-8
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