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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Publicat a:BMC Med Genet
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2017
Matèries:
Case Report
Accés en línia: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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