Point mutations in the beta-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease.

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Article

Point mutations in the beta-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease.

Blood - 1 Jun 1991

Bolscher B G, de Boer M, de Klein A, Weening R S, Roos D

Abstract excerpt

The NADPH:O2 oxidoreductase of phagocytic leukocytes is an important enzyme for the bactericidal activity of these cells. Cytochrome b558 is a membrane component of this enzyme. In X-linked chronic granulomatous disease (Xb- CGD) the phagocytes are defective in the beta-subunit (gp91-phox) of this cytochrome. We have studied the genetic defect in a group of six X-linked CGD patients characterized by complete or...

Topics

Alleles
Antibodies, Monoclonal
Base Sequence
Blotting, Western
Cytochrome b Group
DNA
Granulomatous Disease, Chronic
Humans
Leukocytes, Mononuclear
Macromolecular Substances
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

NADPH Oxidases

Nucleic Acid Hybridization

Oligonucleotide Probes

Polymerase Chain Reaction

RNA

X Chromosome

Source

Open in PubMed

Identifiers

PMID: 1710153

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1710153-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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