Articles with "mutation cybb" as a keyword



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

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Published in 2017 at "BMC Medical Genetics"

DOI: 10.1186/s12881-017-0492-6

Abstract: BackgroundChronic 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… read more here.

Keywords: three variants; cgd; mutation cybb; cyba gene ... See more keywords