TY  - GEN
AU  - van de Vosse,Esther
AU  - Verhard,Els M
AU  - Tool,Anton J T
AU  - de Visser,Adriëtte W
AU  - Kuijpers,Taco W
AU  - Hiemstra,Pieter S
AU  - van Dissel,Jaap T
TI  - Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation
SN  - 1432-0584
PY  - 2011///0303
KW  - Antimicrobial Cationic Peptides
KW  - blood
KW  - Chromosome Mapping
KW  - Congenital Bone Marrow Failure Syndromes
KW  - DNA Mutational Analysis
KW  - Genetic Linkage
KW  - Genetic Markers
KW  - Granulocyte Colony-Stimulating Factor
KW  - therapeutic use
KW  - Humans
KW  - Leukocyte Elastase
KW  - genetics
KW  - Mutation
KW  - Neutropenia
KW  - Neutrophils
KW  - physiology
KW  - Pedigree
KW  - alpha 1-Antitrypsin
KW  - metabolism
KW  - Cathelicidins
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1007/s00277-010-1056-4
ER  -