Functional characteristics of circulating granulocytes in severe congenital neutropenia caused by ELANE mutations. [electronic resource]
- BMC pediatrics 06 2019
- 189 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1471-2431
10.1186/s12887-019-1556-x doi
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