Publications:

Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases: A Single Center Experience.

Allergy, Asthma & Immunology Research

Kwon, Won Kyung WK; Choi, SooIn S; Kim, Hee Jin HJ; Huh, Hee Jae HJ; Kang, Ji Man JM; Kim, Yae Jean YJ; Yoo, Keon Hee KH; Ahn, Kangmo K; Cho, Hye Kyung HK; Peck, Kyong Ran KR; Jang, Ja Hyun JH; Ki, Chang Seok CS; Kang, Eun Suk ES

Publication Date: 2020-03

Variant appearance in text: CYBB: 176G>A

PubMed Link: 32009323

Variant Present in the following documents:

• Main text
• aair-12-292.pdf

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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: Cys59Tyr

PubMed Link: 28607049

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: 176G>A

PubMed Link: 20729109

Variant Present in the following documents:

• Main text

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