A p47-phox pseudogene carries the most common mutation causing p47-phox- deficient chronic granulomatous disease.
The predominant genetic defect causing p47-phox-deficient chronic granulomatous disease (A47 degrees CGD) is a GT deletion (DeltaGT) at the beginning of exon 2. No explanation exists to account for the high incidence of this single mutation causing a rare disease in an unrelated, racially diverse po...
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| Yayımlandı: | J Clin Invest |
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| Asıl Yazarlar: | , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
American Society for Clinical Investigation
1997
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC508379/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/9329953/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI119721 |
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