A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease

Mutations in genes encoding subunits of the phagocyte NADPH oxidase complex are recognized to cause chronic granulomatous disease (CGD), a severe primary immunodeficiency. Here we describe how deficiency of CYBC1, a previously uncharacterized protein in humans (C17orf62), leads to reduced expression...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Nat Commun
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2018
Matèries:
Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6202333/
https://ncbi.nlm.nih.gov/pubmed/30361506
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-018-06964-x
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars