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Article

Prenatal diagnosis of X-linked chronic granulomatous disease by percutaneous umbilical blood sampling.

Scandinavian journal of immunology - 1 Nov 2012

Sun J, Wang Y, Liu D, Yu Y, Wang J, Ying W, Wang X

Abstract excerpt

In this study, we investigated how to prenatally diagnose X-linked chronic granulomatous disease (X-CGD) effectively and accurately. Percutaneous umbilical blood sampling was conducted in the 22nd week of pregnancy. NADPH oxidase activity and gp91(phox) protein expression of neutrophils were analysed using flow cytometry. Direct sequencing was used to detect CYBB gene mutations. Umbilical blood was obtained from...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22924737
DOI: 10.1111/j.1365-3083.2012.02772.x

Genes

CYBB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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