title: Double de novo mutations of ELANE (ELA2) in a patient with severe congenital neutropenia requiring high-dose G-CSF therapy.
authors.forename: Lina
authors.initials: L
authors.lastname: Lundén
authors.forename: Sandra
authors.initials: S
authors.lastname: Boxhammer
authors.forename: Göran
authors.initials: G
authors.lastname: Carlsson
authors.forename: Karl-Gustav
authors.initials: KG
authors.lastname: Ellström
authors.forename: Magnus
authors.initials: M
authors.lastname: Nordenskjöld
authors.forename: Kristina
authors.initials: K
authors.lastname: Lagerstedt-Robinson
authors.forename: Bengt
authors.initials: B
authors.lastname: Fadeel
mesh_terms: D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis / Q000379:methods; D016179:Granulocyte Colony-Stimulating Factor / Q000627:therapeutic use*; D006801:Humans; D019272:Leukocyte Elastase / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D009503:Neutropenia / Q000235:genetics*
chemical_list: D016179:Granulocyte Colony-Stimulating Factor; D019272:Leukocyte Elastase