Severe congenital neutropenia: a negative synergistic effect of multiple mutations of ELANE (ELA2) gene.
Lanciotti
Marina
M
Caridi
Gianluca
G
Rosano
Camillo
C
Pigullo
Simona
S
Lanza
Tiziana
T
Dufour
Carlo
C
D002675:Child, Preschool; D005260:Female; D006801:Humans; D019272:Leukocyte Elastase / Q000235:genetics*; D009154:Mutation; D009503:Neutropenia / Q000151:congenital* / Q000235:genetics*; D011487:Protein Conformation; D017422:Sequence Analysis, DNA
D019272:Leukocyte Elastase