Publications:

Genetic disorders coupled to ROS deficiency.

Redox Biology

O'Neill, Sharon S; Brault, Julie J; Stasia, Marie-Jose MJ; Knaus, Ulla G UG

Publication Date: 2015-12

Variant appearance in text: CGD: K315del

PubMed Link: 26210446

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: 943_945delAAG

PubMed Link: 20729109

Variant Present in the following documents:

• Main text

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