An Autosomal-Recessive GFI1B Mutation Defines the Splice Isoform p37 As Essential for Biogenesis of Functional Human Platelets, but Dispensable for Erythropoiesis

被引:1
|
作者
Schulze, Harald [1 ]
Schlagenhauf, Axel [2 ]
Manukjan, Georgi [1 ]
Beham-Schmid, Christine [3 ]
Andres, Oliver [4 ]
Klopocki, Eva [5 ]
Koenig, Eva-Maria [5 ]
Haidl, Harald [6 ]
Panzer, Simon [7 ]
Althaus, Karina [8 ]
Muntean, Wolfgang [6 ]
Schwinger, Wolfgang [6 ]
Urban, Christian E. [9 ]
Greinacher, Andreas [10 ]
Bakchoul, Tamam [11 ]
Seidel, Markus [6 ]
机构
[1] Univ Hosp Wurzburg, Inst Expt Biomed, Wurzburg, Germany
[2] Med Univ Graz, Dept Pediat & Adolescent Med, Graz, Austria
[3] Med Univ Graz, Inst Pathol Hematopathol, Graz, Austria
[4] Univ Hosp Wurzburg, Wurzburg, Germany
[5] Univ Wurzburg, Wurzburg, Germany
[6] Med Univ Graz, Graz, Austria
[7] Med Univ Vienna, Dept Blood Grp Serol & Transfus Med, Vienna, Austria
[8] Ernst Moritz Arndt Univ Greifswald, Greifswald, Germany
[9] Univ Hosp Graz, Hematol Oncol, Graz, Austria
[10] Ernst Moritz Arndt Univ Greifswald, Inst Immunol Transfus Med, Greifswald, Germany
[11] Univ Tubingen, Transfus Med, Tubingen, Germany
关键词
D O I
10.1182/blood.V128.22.2644.2644
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
2644
引用
收藏
页数:5
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  • [1] Recessive grey platelet-like syndrome with unaffected erythropoiesis in the absence of the splice isoform GFI1B-p37
    Schulze, Harald
    Schlagenhauf, Axel
    Manukjan, Georgi
    Beham-Schmid, Christine
    Klopocki, Oliver Andres Eva
    Konig, Eva-Maria
    Haidl, Harald
    Panzer, Simon
    Althaus, Karina
    Muntean, Wolfgang E.
    Schwinger, Wolfgang
    Urban, Christian
    Greinacher, Andreas
    Bakchoul, Tamam
    Seidel, Markus G.
    HAEMATOLOGICA, 2017, 102 (09) : E375 - E378