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Activation of cryptic splice sites in three patients with chronic granulomatous disease

Activation of cryptic splice sites in three patients with chronic granulomatous disease

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_6aaafce9ab32417c8a5bcf17397ff9b5

Activation of cryptic splice sites in three patients with chronic granulomatous disease

About this item

Full title

Activation of cryptic splice sites in three patients with chronic granulomatous disease

Publisher

United States: John Wiley & Sons, Inc

Journal title

Molecular genetics & genomic medicine, 2019-09, Vol.7 (9), p.e854-n/a

Language

English

Formats

Publication information

Publisher

United States: John Wiley & Sons, Inc

More information

Scope and Contents

Contents

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...

Alternative Titles

Full title

Activation of cryptic splice sites in three patients with chronic granulomatous disease

Authors, Artists and Contributors

Identifiers

Primary Identifiers

Record Identifier

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

Other Identifiers

ISSN

2324-9269

E-ISSN

2324-9269

DOI

10.1002/mgg3.854

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