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Browsing by Journal title "BMC Medical Genetics"

Browsing by Journal title "BMC Medical Genetics"

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  • Jensson, Brynjar O.; Hansdottir, Sif; Árnadottir, Guðný A.; Sulem, Gerald; Kristjansson, Ragnar; Oddsson, Asmundur; Benónísdóttir, Stefanía; Jónsson, Hákon; Helgason, Agnar; Sæmundsdóttir, Jóna; Magnússon, Ólafur T.; Másson, Gísli; Thorisson, Gudmundur; Jónasdóttir, Aðalbjörg; Jónasdóttir, Áslaug; Sigurðsson, Ásgeir; Jonsdottir, Ingileif; Pétursdóttir, Vigdís; Kristinsson, Jón R.; Gudbjartsson, Daniel; Thorsteinsdottir, Unnur; Arngrimsson, Reynir; sulem, patrick; Guðmundsson, Gunnar; Stefánsson, Kári (Springer Nature, 2017-11-14)
    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 ...