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Article

Characterization of 17 new cases of X-linked chronic granulomatous disease with seven novel mutations in the CYBB gene.

Experimental hematology - 1 Apr 2006

von Goessel Heiko, Hossle Johann Peter, Seger Reinhard, Gungor Tayfun

Abstract excerpt

OBJECTIVE: Molecular identification and clinical characterization of genetic mutations in patients with X-linked chronic granulomatous disease (CGD). PATIENTS AND METHODS: Genomic DNA from 17 male patients with proven X-linked CGD based on clinical history, clinical examination, and specific granulocyte function tests were amplified by polymerase chain reaction (PCR) for sequences of the CYBB gene encoding...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16569599
DOI: 10.1016/j.exphem.2006.01.005

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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Characterization of 17 new cases of X-linked chronic granulomatous disease with seven novel mutations in the CYBB gene.PMID 16569599Read ↗

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Clinical, functional and genetic characterization of 16 patients suffering from chronic granulomatous disease variants – identification of 11 novel mutations inCYBBSemantic proximity Read ↗

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