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Article

A novel mutation in the CYBB gene resulting in an unexpected pattern of exon skipping and chronic granulomatous disease.

Biochimica et biophysica acta - 30 Aug 1999

Noack D, Heyworth P G, Curnutte J T, Rae J, Cross A R

Abstract excerpt

Chronic granulomatous disease is a rare inherited disorder caused by non-existent or severely decreased phagocyte superoxide production that results in a severe defect in host defense and consequent predisposition to microbial infection. The enzyme responsible for superoxide production, NADPH oxidase, involves at least five components. An absence of, or a defect in, any one of four of these proteins (p47(phox),...

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Source

Identifiers

PMID: 10452961
DOI: 10.1016/s0925-4439(99)00044-7

Genes

CYBB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A novel mutation in the CYBB gene resulting in an unexpected pattern of exon skipping and chronic granulomatous disease.PMID 10452961Read ↗

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

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

Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22(phox).Semantic proximity Read ↗

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

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

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

A novel mutation in EROS (<i>CYBC1</i>) causes Chronic Granulomatous DiseaseSemantic proximity Read ↗

Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease.Semantic proximity Read ↗

X-linked chronic granulomatous disease secondary to skewed X chromosome inactivation in a female with a novel CYBB mutation and late presentation.Semantic proximity Read ↗

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