van de Vosse, Esther Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation. [electronic resource] - Annals of hematology Feb 2011 - 151-8 p. digital Publication Type: Journal Article ISSN: 1432-0584 Standard No.: 10.1007/s00277-010-1056-4 doi Subjects--Topical Terms: Antimicrobial Cationic Peptides--bloodChromosome MappingCongenital Bone Marrow Failure SyndromesDNA Mutational AnalysisGenetic LinkageGenetic MarkersGranulocyte Colony-Stimulating Factor--therapeutic useHumansLeukocyte Elastase--geneticsMutationNeutropenia--bloodNeutrophils--physiologyPedigreealpha 1-Antitrypsin--metabolismCathelicidins