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Volumn 62, Issue 10, 2015, Pages 1870-1871

A novel ELANE gene mutation in a patient with severe congenital neutropenia and intermittent thrombocytopenia

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBIOTIC AGENT; GRANULOCYTE COLONY STIMULATING FACTOR; HEMOGLOBIN; LEUKOCYTE ELASTASE;

EID: 84939565769     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.25528     Document Type: Letter
Times cited : (3)

References (7)
  • 2
    • 0034194059 scopus 로고    scopus 로고
    • Differential expression and regulation of GTPases (RhoA and Rac2) and GDIs (LyGDI and RhoGDI) in neutrophils from patients with severe congenital neutropenia
    • Kasper B, Tidow N, Grothues D, Welte K. Differential expression and regulation of GTPases (RhoA and Rac2) and GDIs (LyGDI and RhoGDI) in neutrophils from patients with severe congenital neutropenia. Blood 2000; 95:2947-2953.
    • (2000) Blood , vol.95 , pp. 2947-2953
    • Kasper, B.1    Tidow, N.2    Grothues, D.3    Welte, K.4
  • 3
    • 0035525791 scopus 로고    scopus 로고
    • 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
    • Ancliff PJ, Gale RE, Liesner R, Hann IM, Linch DC. 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; 98:2645-2650.
    • (2001) Blood , vol.98 , pp. 2645-2650
    • Ancliff, P.J.1    Gale, R.E.2    Liesner, R.3    Hann, I.M.4    Linch, D.C.5
  • 5
    • 70350435426 scopus 로고    scopus 로고
    • Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia
    • Xia J, Bolyard AA, Rodger E, Stein S, Aprikyan AA, Dale DC, Link DC. Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia. Br J Haematol 2009; 147:535-542.
    • (2009) Br J Haematol , vol.147 , pp. 535-542
    • Xia, J.1    Bolyard, A.A.2    Rodger, E.3    Stein, S.4    Aprikyan, A.A.5    Dale, D.C.6    Link, D.C.7
  • 6
    • 84878151900 scopus 로고    scopus 로고
    • The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia
    • Germeshausen M, Deerberg S, Peter Y, Reimer C, Kratz CP, Ballmaier M. The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. Hum Mutat 2013; 34:905-914.
    • (2013) Hum Mutat , vol.34 , pp. 905-914
    • Germeshausen, M.1    Deerberg, S.2    Peter, Y.3    Reimer, C.4    Kratz, C.P.5    Ballmaier, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.