Double de novo mutations of ELANE (ELA2) in a patient with severe congenital neutropenia requiring high-dose G-CSF therapy.
Lundén
Lina
L
Boxhammer
Sandra
S
Carlsson
Göran
G
Ellström
Karl-Gustav
KG
Nordenskjöld
Magnus
M
Lagerstedt-Robinson
Kristina
K
Fadeel
Bengt
B
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*
D016179:Granulocyte Colony-Stimulating Factor; D019272:Leukocyte Elastase