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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שמור ב:
מידע ביבליוגרפי
הוצא לאור ב: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
פורמט: Artigo
שפה:Inglês
יצא לאור: BioMed Central 2017
נושאים:
Case Report
גישה מקוונת: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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