Publications:

Crystal structures and atomic model of NADPH oxidase.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Magnani, Francesca F; Nenci, Simone S; Millana Fananas, Elisa E; Ceccon, Marta M; Romero, Elvira E; Fraaije, Marco W MW; Mattevi, Andrea A

Publication Date: 2017-06-27

Variant appearance in text: NOX2: His354Arg

PubMed Link: 28607049

Variant Present in the following documents:

• Main text

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Flow Cytometry, a Versatile Tool for Diagnosis and Monitoring of Primary Immunodeficiencies.

Clinical And Vaccine Immunology : Cvi

Abraham, Roshini S RS; Aubert, Geraldine G

Publication Date: 2016-04

Variant appearance in text: CGD: 1061A>G

PubMed Link: 26912782

Variant Present in the following documents:

• Main text

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Hematologically important mutations: X-linked chronic granulomatous disease (third update).

Blood Cells, Molecules & Diseases

Roos, Dirk D; Kuhns, Douglas B DB; Maddalena, Anne A; Roesler, Joachim J; Lopez, Juan Alvaro JA; Ariga, Tadashi T; Avcin, Tadej T; de Boer, Martin M; Bustamante, Jacinta J; Condino-Neto, Antonio A; Di Matteo, Gigliola G; He, Jianxin J; Hill, Harry R HR; Holland, Steven M SM; Kannengiesser, Caroline C; Köker, M Yavuz MY; Kondratenko, Irina I; van Leeuwen, Karin K; Malech, Harry L HL; Marodi, László L; Nunoi, Hiroyuki H; Stasia, Marie-José MJ; Ventura, Anna Maria AM; Witwer, Carl T CT; Wolach, Baruch B; Gallin, John I JI

Publication Date: 2010-10-15

Variant appearance in text: CGD: 1061A>G

PubMed Link: 20729109

Variant Present in the following documents:

• Main text

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Rapid genetic analysis of x-linked chronic granulomatous disease by high-resolution melting.

The Journal Of Molecular Diagnostics : Jmd

Hill, Harry R HR; Augustine, Nancy H NH; Pryor, Robert J RJ; Reed, Gudrun H GH; Bagnato, Joshua D JD; Tebo, Anne E AE; Bender, Jeffrey M JM; Pasi, Brian M BM; Chinen, Javier J; Hanson, I Celine IC; de Boer, Martin M; Roos, Dirk D; Wittwer, Carl T CT

Publication Date: 2010-05

Variant appearance in text: CYBB: H354R

PubMed Link: 20228266

Variant Present in the following documents:

• Main text

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