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Article

Detection of non-DeltaGT NCF-1 mutations in chronic granulomatous disease.

Genetic testing and molecular biomarkers - 1 Aug 2009

Jakobsen Marianne Antonius, Pedersen Svend Stenvang, Barington Torben

Abstract excerpt

AIMS: Chronic granulomatous disease (CGD) is a rare inherited disorder caused by mutations in the subunits of the NADPH oxidase complex, leaving phagocytes unable to produce superoxide and thereby unable to kill invading microorganisms. A subgroup of CGD patients (approximately 20%) is reported to have mutations in NCF-1 encoding p47-phox, which is part of the cytosolic component of NADPH oxidase. More than 94%...

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Identifiers

PMID: 19663600
DOI: 10.1089/gtmb.2009.0016

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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