Buscar
Mostrando ítems 1-10 de 36
Identificación de mutaciones en el gen CYBB que llevan al fenotipo de la enfermedad granulomatosa crónica ligada al cromosoma X: Reporte de una nueva mutación
(Soc. Médica Santiago, 2006-08)
The X-linked form of chronic granulomatous disease (CGD) is a primary immunodeficiency that affects phagocytes of the innate immune system and is characterized by an increased susceptibility to severe bacterial and fungal ...
Report of a new mutation in CYBB gene in two patients with X linked chronic granulomatous disease
(Soc Medica SantiagoSantiago 9Chile, 2006)
Regulation Of Cybb Gene Expression In Human Phagocytes By A Distant Upstream Nf-b Binding Site
(WILEY-BLACKWELLHOBOKEN, 2015)
Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease
(NATURE PUBLISHING GROUP, 2011)
Germline mutations in CYBB, the human gene encoding the gp91(phox) subunit of the phagocyte NADPH oxidase, impair the respiratory burst of all types of phagocytes and result in X-linked chronic granulomatous disease (CGD). ...
Identificación de mutaciones en el gen CYBB que llevan al fenotipo de la enfermedad granulomatosa crónica ligada al cromosoma X: Reporte de una nueva mutaciónReport of a new mutation in CYBB gene in two patients with X linked chronic granulomatous disease
(Sociedad Médica de SantiagoInmunodeficiencias PrimariasSantiago de Chile, Chile, 2022)
Hematologically important mutations: X-linked chronic granulomatous disease (third update)
(ACADEMIC PRESS INC ELSEVIER SCIENCE, 2010)
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 ...