Characterization of the Wiskott-Aldrich syndrome protein and its role in the disease

被引:29
作者
Nonoyama, S
Ochs, HD
机构
[1] Tokyo Med & Dent Univ, Sch Med, Dept Pediat, Bunkyo Ku, Tokyo 1138519, Japan
[2] Univ Washington, Sch Med, Dept Pediat, Seattle, WA 98195 USA
关键词
D O I
10.1016/S0952-7915(98)80113-1
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
Wiskott-Aldrich syndrome is an X-linked disorder characterized by thrombocytopenia, eczema and immunodeficiency. The Wiskott-Aldrich syndrome protein and the gene that encodes it have been identified by positional cloning and the protein has been shown to contain a pleckstrin-homology domain, a GTPase-binding domain, a proline-rich region and a verprolin/cofilin homology domain. Subsequent studies suggest that the protein is involved in signal transduction and the regulation of the cytoskeleton.
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收藏
页码:407 / 412
页数:6
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