Activation of cryptic splice sites in three patients with chronic granulomatous disease
Activation of cryptic splice sites in three patients with chronic granulomatous disease
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United States: John Wiley & Sons, Inc
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Language
English
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Publisher
United States: John Wiley & Sons, Inc
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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 microorganisms.
Methods
We analyzed NADPH o...
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Full title
Activation of cryptic splice sites in three patients with chronic granulomatous disease
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TN_cdi_doaj_primary_oai_doaj_org_article_6aaafce9ab32417c8a5bcf17397ff9b5
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_6aaafce9ab32417c8a5bcf17397ff9b5
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ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.854