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Article

The three CYBA variants (rs4673, rs1049254 and rs1049255) are benign: new evidence from a patient with CGD.

BMC medical genetics - 13 Nov 2017

Sun Jinqiao, Wen Min, Wang Ying, Liu Danru, Ying Wenjing, Wang Xiaochuan

Abstract excerpt

BACKGROUND: Chronic granulomatous disease (CGD) is an inherited immunodeficiency disease caused by the defect of NADPH oxidase. Mutations in CYBB or CYBA gene may result in membrane subunits, gp91phox or p22phox, expression failure respectively and NADPH oxidase deficiency. Previous study showed that three variants, c.214 T > C (rs4673), c.521 T > C (rs1049254) and c.*24G > A (rs1049255), in CYBA gene form a...

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Share to Anti-Bacterial Agents
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Source

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Identifiers

PMID: 29132304
DOI: 10.1186/s12881-017-0492-6
PMCID: PMC5683331

Genes

CYBA
CYBB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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