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Mutations in the promoter region of the gene for gp91-phox in X-linked chronic granulomatous disease with decreased expression of cytochrome b558.

We examined the molecular defect in two kindreds with "variant" X-linked chronic granulomatous disease (CGD). Western blots of neutrophil extracts showed decreased immunoreactive cytochrome b558 components gp91-phox and p22-phox. Analysis of mRNA demonstrated reduced gp91-phox transcripts, with rela...

Ausführliche Beschreibung

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Bibliografische Detailangaben
Veröffentlicht in:J Clin Invest
Hauptverfasser: Newburger, P E, Skalnik, D G, Hopkins, P J, Eklund, E A, Curnutte, J T
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society for Clinical Investigation 1994
Schlagworte:
Online-Zugang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC295199/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8083361/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI117437
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