1[1]Horwitz M,Benson KF,Person RE,et al.Mutations in ELA2,encoding neutrophil elastase,define a 21-day biological clock in cyclic haematopoiesis.Nat Genet,1999,23(4):433～436
2[2]Dale DC,Person RE,Bolyard AA,et al.Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia.Blood,2000,96(7):2317～2322
3[3]Phil JA,Rosemary EG,Ri L,et al.Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease.Blood,2001,98(9):2645～2650
4[4]Li FQ,Horwitz M.Characterization of mutant neutrophil elastase in severe congenital neutropenia.J Biol Chem,2001,276(17):14230～14241
5[5]Ancliff PJ,Gale RE,Watts MJ,et al.Paternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropenia.Blood,2002,100(2):707～709
7[7]Tkalcevic J,Novelli M,Phylactides M,et al.Impaired immunity and enhanced resistance to endotoxin in the absence of neutrophil elastase and cathepsin G.Immunity,2000,12(2):201～210
8[8]Grenda DS,Mclemore ML,Johnson SE,et al.Mice expressing neutrophil elastase bearing the V72M mutation found in patients with severe congenital neutropenia do not display an SCN phenotype[abstract].Blood,2001,98:440
9[9]Germeshausen M,Schulze H,Ballmaier M,et al.Mutations in the gene encoding neutrophil elastase (ELA2)are not sufficient to cause the phenotype of congenital neutropenia.Br J Haematol,2001,115(1):222～224
10[10]Benson KF,Horwitz M.Possibility of somatic mosaicism of ELA2 mutation overlooked in an asymptomatic father transmitting severe congenital neutropenia to two offspring.Br J Haematol,2002,118(3):923
