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