A rare case of syndromic severe congenital neutropenia: JAGN1 mutation
A rare case of syndromic severe congenital neutropenia: JAGN1 mutation
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Publisher
Turkey: Hacettepe University Faculty of Medicine
Journal title
Language
English
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Publisher
Turkey: Hacettepe University Faculty of Medicine
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Scope and Contents
Contents
Neutrophils are essential innate cells to fight bacterial and fungal pathogens. Jagunal homolog 1 (JAGN1) mutations were recently defined as rare genetic defects causing severe congenital neutropenia. JAGN1 participates in the secretory pathway and is required for granulocyte colony-stimulating factor receptormediated signalling. This gene is requi...
Alternative Titles
Full title
A rare case of syndromic severe congenital neutropenia: JAGN1 mutation
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_48d941dab1064d87a77337bd4507d598
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_48d941dab1064d87a77337bd4507d598
Other Identifiers
ISSN
0041-4301
E-ISSN
2791-6421
DOI
10.24953/turkjped.2020.02.022
