1887

n South African Medical Journal - A novel CYBB mutation with the first genetically confirmed case of chronic granulomatous disease in South Africa : original article

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Abstract

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.

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/content/m_samj/101/10/EJC67415
2011-10-01
2016-12-03
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