Functional characteristics of circulating granulocytes in severe congenital neutropenia caused by ELANE mutations. [electronic resource]
Producer: 20200703Description: 189 p. digitalISSN:- 1471-2431
- Bone Marrow Cells -- physiology
- Child, Preschool
- Codon, Terminator
- Congenital Bone Marrow Failure Syndromes -- blood
- Eosinophils -- enzymology
- Female
- Frameshift Mutation
- Glucose-6-Phosphatase -- genetics
- Granulocytes -- enzymology
- Humans
- Infant
- Leukocyte Count
- Leukocyte Elastase -- genetics
- Male
- NADPH Oxidases -- metabolism
- Neutropenia -- blood
- Neutrophils -- metabolism
- Point Mutation
- Reactive Oxygen Species -- metabolism
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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