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Items: 5

1.
Cytochrome b558-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b558 light chain of the NADPH oxidase (p22-phox).
M de Boer, A de Klein, J P Hossle, R Seger, L Corbeel, R S Weening, D Roos
Am J Hum Genet. 1992 Nov; 51(5): 1127–1135.
PMCID:
PMC1682833
SummaryPage BrowsePDF–1.6M
2.
Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease.
M C Dinauer, E A Pierce, G A Bruns, J T Curnutte, S H Orkin
J Clin Invest. 1990 Nov; 86(5): 1729–1737. doi: 10.1172/JCI114898
PMCID:
PMC296926
SummaryPage BrowsePDF–1.8M
3.
Point mutation in the cytoplasmic domain of the neutrophil p22-phox cytochrome b subunit is associated with a nonfunctional NADPH oxidase and chronic granulomatous disease.
M C Dinauer, E A Pierce, R W Erickson, T J Muhlebach, H Messner, S H Orkin, R A Seger, J T Curnutte
Proc Natl Acad Sci U S A. 1991 Dec 15; 88(24): 11231–11235. doi: 10.1073/pnas.88.24.11231
PMCID:
PMC53108
SummaryPage BrowsePDF–1.1M
4.
Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2
Simone Lipinski, Britt-Sabina Petersen, Matthias Barann, Agnes Piecyk, Florian Tran, Gabriele Mayr, Marlene Jentzsch, Konrad Aden, Stephanie T. Stengel, Ulrich C. Klostermeier, Vrunda Sheth, David Ellinghaus, Tobias Rausch, Jan O. Korbel, Michael Nothnagel, Michael Krawczak, Christian Gilissen, Joris A. Veltman, Michael Forster, Peter Forster, Clarence C. Lee, Annette Fritscher-Ravens, Stefan Schreiber, Andre Franke, Philip Rosenstiel
Cold Spring Harb Mol Case Stud. 2019 Feb; 5(1): a002428. doi: 10.1101/mcs.a002428
PMCID:
PMC6371741
ArticlePDF–8.7M
5.
A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease
Gudny A. Arnadottir, Gudmundur L. Norddahl, Steinunn Gudmundsdottir, Arna B. Agustsdottir, Snaevar Sigurdsson, Brynjar O. Jensson, Kristbjorg Bjarnadottir, Fannar Theodors, Stefania Benonisdottir, Erna V. Ivarsdottir, Asmundur Oddsson, Ragnar P. Kristjansson, Gerald Sulem, Kristjan F. Alexandersson, Thorhildur Juliusdottir, Kjartan R. Gudmundsson, Jona Saemundsdottir, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Asgeir Sigurdsson, Paolo Manzanillo, Sigurjon A. Gudjonsson, Gudmundur A. Thorisson, Olafur Th. Magnusson, Gisli Masson, Kjartan B. Orvar, Hilma Holm, Sigurdur Bjornsson, Reynir Arngrimsson, Daniel F. Gudbjartsson, Unnur Thorsteinsdottir, Ingileif Jonsdottir, Asgeir Haraldsson, Patrick Sulem, Kari Stefansson
Nat Commun. 2018; 9: 4447. Published online 2018 Oct 25. doi: 10.1038/s41467-018-06964-x
PMCID:
PMC6202333
ArticlePDF–731K

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