A novel CYBB mutation with the first genetically confirmed case of chronic granulomatous disease in South Africa

Autor:	Naidoo, R., Jordaan, N., Chan, K. W., David le Roux, Pienaar, S., Nuttall, J., Lau, Y. L., Eley, B. S.
Jazyk:	angličtina
Rok vydání:	2011
Předmět:	congenital hereditary and neonatal diseases and abnormalities immune system diseases hemic and lymphatic diseases
Zdroj:	SAMJ: South African Medical Journal, Volume: 101, Issue: 10, Pages: 768-769, Published: OCT 2011 South African Medical Journal; Vol 101, No 10 (2011); 768-769 Scopus-Elsevier
ISSN:	2078-5135
Popis:	A case of a child with chronic granulomatous disease (CGD) presenting with recurrent mycobacterial infections and invasive Aspergillus fumigatus disease is described. Genetic analysis confirmed X-linked CGD with a novel mutation in exon 10 of the CYBB gene – the first South African report of genetically confirmed CGD.
Databáze:	OpenAIRE
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