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...
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| Publicado no: | J Clin Invest |
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| Principais autores: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Society for Clinical Investigation
1994
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| Assuntos: | |
| Acesso em linha: | 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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