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

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

Abstract 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...

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Bibliographic Details
Main Authors: Brynjar O. Jensson, Sif Hansdottir, Gudny A. Arnadottir, Gerald Sulem, Ragnar P. Kristjansson, Asmundur Oddsson, Stefania Benonisdottir, Hakon Jonsson, Agnar Helgason, Jona Saemundsdottir, Olafur T. Magnusson, Gisli Masson, Gudmundur A. Thorisson, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Asgeir Sigurdsson, Ingileif Jonsdottir, Vigdis Petursdottir, Jon R. Kristinsson, Daniel F. Gudbjartsson, Unnur Thorsteinsdottir, Reynir Arngrimsson, Patrick Sulem, Gunnar Gudmundsson, Kari Stefansson
Format: Article
Language:English
Published: BMC 2017-11-01
Series:BMC Medical Genetics
Subjects:
COPA syndrome
Lung disease
Arthritis
Immune dysregulation
Case report
Online Access:http://link.springer.com/article/10.1186/s12881-017-0490-8

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http://link.springer.com/article/10.1186/s12881-017-0490-8

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