PRESENCE OF THREE POINT MUTATIONS IN THE ELA2 GENE OF A PATIENT WITH SEVERE CONGENITAL NEUTROPENIA (SCN)

被引：0
|
作者：
Lanciotti, M. [1 ]
Caridi, G. [1 ]
Pigullo, S. [1 ]
Lanza, T. [1 ]
Dufour, C. [1 ]
机构：
[1] G Gaslini Inst Children, Genoa, Italy
来源：
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL | 2008年 / 93卷
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
0053
引用
收藏
页码：20 / 21
页数：2
相关论文
共 50 条
  • [1] Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia
    Salipante, Stephen J.
    Benson, Kathleen F.
    Luty, Joanna
    Hadavi, Valeh
    Kariminejad, Roxana
    Kariminejad, Mohamad H.
    Rezaei, Nima
    Horwitz, Marshall S.
    HUMAN MUTATION, 2007, 28 (09) : 874 - 881
  • [2] Complex heterozygosis of the gene ELA2 in a case of severe congenital neutropenia
    Lanciotti, M.
    Caridi, G.
    Pigullo, S.
    Lanza, T.
    Dufour, C.
    HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2007, 92 (06): : 34 - 34
  • [3] Severe congenital neutropenia: a negative synergistic effect of multiple mutations of ELANE (ELA2) gene
    Lanciotti, Marina
    Caridi, Gianluca
    Rosano, Camillo
    Pigullo, Simona
    Lanza, Tiziana
    Dufour, Carlo
    BRITISH JOURNAL OF HAEMATOLOGY, 2009, 146 (05) : 578 - 580
  • [4] Ela2 Mutations and Clinical Manifestations in Familial Congenital Neutropenia
    Shiohara, Masaaki
    Shigemura, Tomonari
    Saito, Shoji
    Tanaka, Miyuki
    Yanagisawa, Ryu
    Sakashita, Kazuo
    Asada, Hiroshi
    Ishii, Eizaburo
    Koike, Kazutoshi
    Chin, Motoaki
    Kobayashi, Masao
    Koike, Kenichi
    JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, 2009, 31 (05) : 319 - 324
  • [5] Mutations in the neutrophil elastase gene (ELA2) are present in patients with cyclic and severe congenital neutropenia.
    Bellane-Chantelot, C
    Cassinat, B
    Clauin, S
    Millot, F
    Sirvent, N
    Michallet, M
    Thomas, G
    Chomienne, C
    Donnadieu, J
    Leblanc, T
    BLOOD, 2000, 96 (11) : 610A - +
  • [6] Strong evidence for autosomal dominant inheritance of severe congenital neutropenia associated with ELA2 mutations
    Boxer, Laurence A.
    Stein, Steven
    Buckley, Danielle
    Bolyard, Audrey Anna
    Dale, David C.
    JOURNAL OF PEDIATRICS, 2006, 148 (05): : 633 - 636
  • [7] Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis
    Grenda, David S.
    Murakami, Mark
    Ghatak, Jhuma
    Xia, Jun
    Boxer, Laurence A.
    Dale, David
    Dinauer, Mary C.
    Link, Daniel C.
    BLOOD, 2007, 110 (13) : 4179 - 4187
  • [8] Mutations in the gene encoding neutrophil elastase (ELA2) are not sufficient to cause congenital neutropenia.
    Germeshausen, M
    Ballmaier, M
    Zeidler, C
    Schulze, H
    Welte, K
    BLOOD, 2001, 98 (11) : 440A - 440A
  • [9] Mutations in the gene encoding neutrophil elastase (ELA2) are not sufficient to cause the phenotype of congenital neutropenia
    Germeshausen, M
    Schulze, H
    Ballmaier, M
    Zeidler, C
    Welte, K
    BRITISH JOURNAL OF HAEMATOLOGY, 2001, 115 (01) : 222 - 224
  • [10] Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis.
    Murakami, Mark A.
    Grenda, David S.
    Ghatak, Jhuma
    Boxer, Laurence A.
    Dale, David C.
    Dinauer, Mary C.
    Bolyard, Audrey Anna
    Link, Daniel C.
    BLOOD, 2006, 108 (11) : 151A - 151A
12345