NCF1 (p47phox)-deficient chronic granulomatous disease: comprehensive genetic and flow cytometric analysis.
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DOI: 10.1182/bloodadvances.2018023184
Abstract: Mutations in NCF1 (p47phox) cause autosomal recessive chronic granulomatous disease (CGD) with abnormal dihydrorhodamine (DHR) assay and absent p47phox protein. Genetic identification of NCF1 mutations is complicated by adjacent highly conserved (>98%) pseudogenes (NCF1B and… read more here.
Keywords: ncf1 p47phox; p47phox; granulomatous disease; chronic granulomatous ... See more keywords