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Article

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

Pediatric blood & cancer - 1 Apr 2005

Barese Cecilia N, Copelli Silvia B, De Matteo Elena, Zandomeni Rubén, Salgueiro Fabián, Di Giovanni Daniela, Heyworth Paul, Rivas Eva María

Abstract excerpt

Chronic granulomatous disease (CGD) is a primary immunodeficiency that affects the oxidative mechanism of microbial killing of phagocytic cells. The defect is characterized by a lack or severely reduced superoxide anion (O2-) production by phagocytes. Seventy percent of CGD cases are X-linked (X-CGD) and they are caused by mutations in the gene encoding for gp91(phox), one of the two subunits 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: 15468310
DOI: 10.1002/pbc.20204

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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Molecular characterization of a novel splice site mutation within the CYBB gene leading to X-linked chronic granulomatous disease.PMID 15468310Read ↗

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

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

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

Splice site mutations are a common cause of X-linked chronic granulomatous disease.Semantic proximity Read ↗

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

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

Molecular diagnosis of X-linked chronic granulomatous disease in Iran.Semantic proximity Read ↗

Identification and functional characterization of two novel mutations in the α-helical loop (residues 484-503) of CYBB/gp91(phox) resulting in the rare X91(+) variant of 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 ↗

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