Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation. [electronic resource]
Producer: 20110303Description: 151-8 p. digitalISSN:- 1432-0584
- Antimicrobial Cationic Peptides -- blood
- Chromosome Mapping
- Congenital Bone Marrow Failure Syndromes
- DNA Mutational Analysis
- Genetic Linkage
- Genetic Markers
- Granulocyte Colony-Stimulating Factor -- therapeutic use
- Humans
- Leukocyte Elastase -- genetics
- Mutation
- Neutropenia -- blood
- Neutrophils -- physiology
- Pedigree
- alpha 1-Antitrypsin -- metabolism
- Cathelicidins
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Publication Type: Journal Article
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