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Article

An unusual intronic mutation in the CYBB gene giving rise to chronic granulomatous disease.

Biochimica et biophysica acta - 28 Sept 2001

Noack D, Heyworth P G, Newburger P E, Cross A R

Abstract excerpt

The most common, X-linked, form of chronic granulomatous disease (CGD) is caused by mutations in the CYBB gene located at Xp21.1. The product of this gene is the large subunit of flavocytochrome b558, gp91phox, which forms the catalytic core of the antimicrobial superoxide-generating enzyme, NADPH oxidase. In the overwhelming majority of cases, mutations are family-specific and occur in the exonic regions of the...

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

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Source

Identifiers

PMID: 11566256
DOI: 10.1016/s0925-4439(01)00065-5

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.

Related research

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An unusual intronic mutation in the CYBB gene giving rise to chronic granulomatous disease.PMID 11566256Read ↗

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

Hematologically important mutations: X-linked chronic granulomatous disease (third update).Semantic proximity Read ↗

X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.Semantic proximity Read ↗

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