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Article

Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene).

Human mutation - 1 Aug 2001

Gérard B, El Benna J, Alcain F, Gougerot-Pocidalo M A, Grandchamp B, Chollet-Martin S

Abstract excerpt

The most frequent form of chronic granulomatous disease (CGD) is caused by inactivation of the CYBB gene, which encodes the gp91-phox subunit of phagocyte NADPH oxidase. This defect prevents phagocytes from producing reactive oxygen species and thus from eradicating bacterial and fungal infections. We investigated 16 unrelated male patients with suspected X-linked CGD and gp91-phox deficiency. A mutation was...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Polymorphism, Single-Stranded Conformational

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Source

Identifiers

PMID: 11462241
DOI: 10.1002/humu.1166

Genes

CYBB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene).PMID 11462241Read ↗

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