المؤلفون: Arnadottir, Gudny A, Norddahl, Gudmundur L, Gudmundsdottir, Steinunn, Agustsdottir, Arna B, Sigurdsson, Snaevar, Jensson, Brynjar O, Bjarnadottir, Kristbjorg, Theodors, Fannar, Benonisdottir, Stefania, Ivarsdottir, Erna V, Oddsson, Asmundur, Kristjansson, Ragnar P, Sulem, Gerald, Alexandersson, Kristjan F, Juliusdottir, Thorhildur, Gudmundsson, Kjartan R, Saemundsdottir, Jona, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Manzanillo, Paolo, Gudjonsson, Sigurjon A, Thorisson, Gudmundur A, Magnusson, Olafur Th, Masson, Gisli, Orvar, Kjartan B, Holm, Hilma, Bjornsson, Sigurdur, Arngrimsson, Reynir, Gudbjartsson, Daniel F, Thorsteinsdottir, Unnur, Jonsdottir, Ingileif, Haraldsson, Asgeir, Sulem, Patrick, Stefansson, Kari

المساهمون: 1 deCODE Genetics/Amgen, Inc., Reykjavik, Iceland. 2 School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland. 3 Department of Internal Medicine, Landspitali University Hospital, Reykjavik, Iceland. 4 The Medical Center, Glaesibae, Reykjavik, Iceland. 5 Department of Genetics and Molecular Medicine, Landspitali University Hospital, Reykjavik, Iceland. 6 Faculty of Medicine, University of Iceland, Reykjavik, Iceland. 7 Children's Hospital Iceland, Landspitali University Hospital, Reykjavik, Iceland. 8 deCODE Genetics/Amgen, Inc., Reykjavik, Iceland. patrick.sulem@decode.is. 9 deCODE Genetics/Amgen, Inc., Reykjavik, Iceland. kari.stefansson@decode.is. 10 Faculty of Medicine, University of Iceland, Reykjavik, Iceland. kari.stefansson@decode.is.

المصدر: Nature communications

مصطلحات موضوعية: Ónæmiskerfi, Stökkbreytingar, Gen, Granulomatous Disease, Chronic, Immune System Diseases, Mutation

العلاقة: https://www.nature.com/articles/s41467-018-06964-xTest; A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease. 2018, 9(1):4447 Nat Commun; http://hdl.handle.net/2336/620759Test; Nature communications

الإتاحة: https://doi.org/10.1038/s41467-018-06964-xTest
http://hdl.handle.net/2336/620759Test

المؤلفون: Sigurdsson, Snaevar, Alexandersson, Kristjan F., Sulem, Patrick, Feenstra, Bjarke, Gudmundsdottir, Steinunn, Halldorsson, Gisli H., Olafsson, Sigurgeir, Sigurdsson, Asgeir, Rafnar, Thorunn, Thorgeirsson, Thorgeir, Sørensen, Erik, Nordholm-Carstensen, Andreas, Burcharth, Jakob, Andersen, Jens, Jørgensen, Henrik Stig, Possfelt-Møller, Emma, Ullum, Henrik, Thorleifsson, Gudmar, Masson, Gisli, Thorsteinsdottir, Unnur

المصدر: Nature Communications; Jun2017, Vol. 8 Issue 6, p15789, 1p