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A homozygous loss-of-function mutation leading to CYBC1 def..:
Arnadottir, Gudny
;
Norðdahl, Guðmundur L
;
Gudmundsdottir, Steinunn
...
Nature Communications;9(1). , 2018
Link:
https://hdl.handle.net/20.500.11815/1386
RT Journal T1
A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease
UL https://suche.suub.uni-bremen.de/peid=base-ftopinvisindi:oai:opinvisindi.is:20.500.11815_1386&Exemplar=1&LAN=DE A1 Arnadottir, Gudny A1 Norðdahl, Guðmundur L A1 Gudmundsdottir, Steinunn A1 Ágústsdóttir, Arna B A1 Sigurðsson, Snævar A1 Jensson, Brynjar Örn A1 Bjarnadóttir, Kristbjörg A1 Theodórs, Fannar A1 Benonisdottir, Stefania A1 Ívarsdóttir, Erna V A1 Oddsson, Asmundur A1 Kristjánsson, Ragnar P A1 Sulem, Gerald A1 Alexandersson, Kristján F A1 Júlíusdóttir, Þórhildur A1 Guðmundsson, Kjartan R A1 Sæmundsdóttir, Jóna A1 Jónasdóttir, Aðalbjörg A1 Jónasdóttir, Áslaug A1 Sigurðsson, Ásgeir A1 Manzanillo, Paolo A1 Guðjónsson, Sigurjón Axel A1 Thorisson, Gudmundur A A1 Magnússon, Ólafur Þ A1 Másson, Gísli A1 Örvar, Kjartan B A1 Holm, Hilma A1 Björnsson, Sigurður A1 Arngrimsson, Reynir A1 Gudbjartsson, Daniel A1 Thorsteinsdottir, Unnur A1 Jonsdottir, Ingileif A1 Haraldsson, Ásgeir A1 sulem, patrick A1 Stefansson, Kari PB Springer Science and Business Media LLC YR 2018 K1 Antimicrobial responses K1 Disease genetics K1 Immunological deficiency syndromes K1 Rare variants K1 Ónæmisfræði K1 Erfðafræði JF Nature Communications;9(1) LK http://dx.doi.org/https://hdl.handle.net/20.500.11815/1386 DO https://hdl.handle.net/20.500.11815/1386 SF ELIB - SuUB Bremen
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