The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. [electronic resource]
Producer: 20131230Description: 905-14 p. digitalISSN:- 1098-1004
- Codon, Initiator
- Enzyme Activation
- Exons
- Gene Expression
- Genotype
- Hematologic Neoplasms -- etiology
- Humans
- Leukocyte Elastase -- genetics
- Mutation
- Neutropenia -- complications
- Neutrophils -- metabolism
- Polymorphism, Genetic
- Promoter Regions, Genetic
- Protein Transport
- RNA Splice Sites
- RNA, Messenger -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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