Publications:

Activation of cryptic splice sites in three patients with chronic granulomatous disease.

Molecular Genetics & Genomic Medicine

de Boer, Martin M; van Leeuwen, Karin K; Hauri-Hohl, Mathias M; Roos, Dirk D

Publication Date: 2019-09

Variant appearance in text: CYBB: 621C>A

PubMed Link: 31364312

Variant Present in the following documents:

• Main text
• MGG3-7-e854.pdf

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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: 621C>A

PubMed Link: 20729109

Variant Present in the following documents:

• Main text

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