Molecular analysis in three cases of X91- variant chronic granulomatous disease.

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Article

Molecular analysis in three cases of X91- variant chronic granulomatous disease.

Blood - 1 Nov 1995

Bu-Ghanim H N, Segal A W, Keep N H, Casimir C M

Abstract excerpt

Defects in gp91-phox, the large subunit of cytochrome b558 (b-245) give rise to X-linked chronic granulomatous disease (CGD), a rare inherited condition characterized by an extreme susceptibility to bacterial and fungal infection. In the majority of cases, the phagocytes are unable to generate an...

Topics

Adolescent
Adult
Amino Acid Sequence
Base Sequence
Cytochrome b Group
DNA Mutational Analysis
DNA, Complementary
Genetic Variation
Granulomatous Disease, Chronic
Humans
Lysine
Macromolecular Substances
Male
Membrane Glycoproteins
Models, Molecular
Molecular Sequence Data
NADH, NADPH Oxidoreductases
NADPH Oxidase 2

Source

Open in PubMed

Identifiers

PMID: 7579466

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7579466-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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