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Article

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

American journal of human genetics - 1 Jun 1998

Rae J, Newburger P E, Dinauer M C, Noack D, Hopkins P J, Kuruto R, Curnutte J T

Abstract excerpt

Chronic granulomatous disease (CGD) is a hereditary disorder of host defense due to absent or decreased activity of phagocyte NADPH oxidase. The X-linked form of the disease derives from defects in the CYBB gene, which encodes the 91-kD glycoprotein component (termed "gp91-phox") of the oxidase. We have identified the mutations in the CYBB gene responsible for X-linked CGD in 131 consecutive independent kindreds....

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Source

Open in PubMed Open full text

Identifiers

PMID: 9585602
DOI: 10.1086/301874
PMCID: PMC1377153

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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X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.PMID 9585602Read ↗

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

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Characterization of 17 new cases of X-linked chronic granulomatous disease with seven novel mutations in the CYBB gene.Semantic proximity Read ↗

Novel mutations in CYBB Gene Cause X-linked chronic Granulomatous Disease in Pakistani patients.Semantic proximity Read ↗

Molecular characterization of a novel splice site mutation within the CYBB gene leading to X-linked chronic granulomatous disease.Semantic proximity Read ↗

Clinical, functional and genetic analysis of twenty-four patients with chronic granulomatous disease - identification of eight novel mutations in CYBB and NCF2 genes.Semantic proximity Read ↗

Characterization of six novel mutations in the CYBB gene leading to different sub-types of X-linked chronic granulomatous disease.Semantic proximity Read ↗

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Identification of a novel mutation in CYBB gene in a Chinese neonate with X-linked chronic granulomatous disease: A case report.Semantic proximity Read ↗

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