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001-es BibID:	BIBFORM013549
Első szerző:	Roos, Dirk
Cím:	Hematologically important mutations : X-linked chronic granulomatous disease (third update) / Dirk Roos, Douglas B. Kuhns, Anne Maddalena, Joachim Roesler, Juan Alvaro Lopez, Tadashi Ariga, Tadej Avcin, Martin de Boer, Jacinta Bustamante, Antonio Condino-Neto, Gigliola Di Matteo, Jianxin He, Harry R. Hill, Steven M. Holland, Caroline Kannengiesser, M. Yavuz Köker, Irina Kondratenko, Karin van Leeuwen, Harry L. Malech, László Marodi, Hiroyuki Nunoi, Marie-José Stasia, Anna Maria Ventura, Carl T. Witwer, Baruch Wolach, John I. Gallin
Dátum:	2010
ISSN:	1079-9796
Megjegyzések:	Chronic granulomatous disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. The disease is caused by a lack of superoxide production by the leukocyte enzyme NADPH oxidase. Superoxide is used to kill phagocytosed micro-organisms in neutrophils, eosinophils, monocytes and macrophages. The leukocyte NADPH oxidase is composed of five subunits, of which the enzymatic component is gp91-phox, also called Nox2. This protein is encoded by the CYBB gene on the X chromosome. Mutations in this gene are found in about 70% of all CGD patients. This article lists all mutations identified in CYBB in the X-linked form of CGD. Moreover, apparently benign polymorphisms in CYBB are also given, which should facilitate the recognition of future disease-causing mutations.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	Blood Cells Molecules And Diseases. - 45 : 3 (2010), p. 246-265. -
További szerzők:	Kuhns, Douglas B. Maddalena, Anne Roesler, Joachim Lopez, Juan Alvaro Ariga, Tadashi Avcin, Tadej Bustamante, Jacinta Condino-Neto, Antonio Matteo, Gigliola He, Jianxin Hill, Harry R. Holland, Steven M. Kannengiesser, Caroline Köker, M. Yavuz Kondratenko, Irina van Leeuwen, Karin Malech, Harry L. Maródi László (1949-) (gyermekgyógyász infektológus, immunológus) Nunoi, Hiroyuki Stasia, Marie-José Ventura, Anna Maria Witwer, Carl T. Wolach, Baruch Gallin, John
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