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Activation of cryptic splice sites in three patients with chronic granulomatous disease
BACKGROUND: Chronic granulomatous disease (CGD) is a primary immune deficiency caused by mutations in the genes encoding the structural components of the phagocyte NADPH oxidase. As a result, the patients cannot generate sufficient amounts of reactive oxygen species required for killing pathogenic m...
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| Pubblicato in: | Mol Genet Genomic Med |
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| Autori principali: | , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
John Wiley and Sons Inc.
2019
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6732321/ https://ncbi.nlm.nih.gov/pubmed/31364312 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.854 |
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