article_metadata: Joachim Roesler Florian Segerer Henner Morbach Stefan Kleinert Sebastian Thieme Angela Rösen-Wolff Johannes G Liese
article_metadata: 10.1371/journal.pone.0034296
article_metadata: PLoS One
article_metadata: 2012;7(4):e34296.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/22514628/
article_metadata: Exons / genetics Granulomatous Disease, Chronic / diagnosis Granulomatous Disease, Chronic / genetics Phosphoproteins / genetics
article_metadata: Exons / genetics Granulomatous Disease, Chronic / diagnosis Granulomatous Disease, Chronic / genetics Phosphoproteins / genetics Case Reports Delayed Diagnosis Humans Male Middle Aged Phosphoproteins neutrophil cytosol factor 67K
article_metadata: PMC3326000
article_metadata: 22514628
article_metadata: P67-phox (NCF2) lacking exons 11 and 12 is functionally active and leads to an extremely late diagnosis of chronic granulomatous disease (CGD)
article_metadata: 2012