Publications:

Chronic Granulomatous Disease: an Updated Experience, with Emphasis on Newly Recognized Features.

Journal Of Clinical Immunology

Oikonomopoulou, Zacharoula Z; Shulman, Stanford S; Mets, Marilyn M; Katz, Ben B

Publication Date: 2022-10

Variant appearance in text: CYBB: 1335C>A

PubMed Link: 35696001

Variant Present in the following documents:

• Main text
• 10875_2022_Article_1294.pdf

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Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.

The Journal Of Molecular Diagnostics : Jmd

Crowgey, Erin L EL; Washburn, Michael C MC; Kolb, E Anders EA; Puffenberger, Erik G EG

Publication Date: 2019-07

Variant appearance in text: CYBB: 1335C>A; Cys445Ter

PubMed Link: 31028937

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

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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: 1335C>A

PubMed Link: 20729109

Variant Present in the following documents:

• Main text

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