WASPbase: A database of WAS- and XLT-causing mutations

被引：73

作者：

Schwarz, K

机构：

[1] TOKYO MED & DENT UNIV, DEPT PEDIAT, TOKYO 113, JAPAN

[2] GLAXO WELLCOME RES & DEV LTD, GENEVA BIOMED RES INST, CH-1228 PLAN LES OUATES, SWITZERLAND

[3] HOP NECKER ENFANTS MALAD, INSERM, U132, F-75015 PARIS 15, FRANCE

[4] CSI UNIV, IMMUNOL UNIT, E-08035 BARCELONA, SPAIN

[5] GOTHENBURG UNIV, DEPT PEDIAT, S-41685 GOTHENBURG, SWEDEN

[6] UNIV ULM, MOL BIOL SECT, D-89075 ULM, GERMANY

[7] UNIV ZURICH, CHILDRENS HOSP, DIV HEMATOL IMMUNOL, CH-8032 ZURICH, SWITZERLAND

[8] GREAT ORMOND ST HOSP CHILDREN, DEPT IMMUNOL, LONDON WC1 N33H, ENGLAND

[9] INST CHILD HLTH, MOL IMMUNOL UNIT, LONDON WD1 N1EM, ENGLAND

[10] UNIV MUNICH, DEPT PEDIAT GENET, D-80336 MUNICH, GERMANY

[11] UNIV BRESCIA, DEPT PEDIAT, I-25123 BRESCIA, ITALY

[12] UNIV MUNICH, CHILDRENS HOSP, DIV PEDIAT IMMUNOL, D-80337 MUNICH, GERMANY

[13] UNIV WASHINGTON, DEPT PEDIAT, SEATTLE, WA 98195 USA

来源：

IMMUNOLOGY TODAY | 1996年 / 17卷 / 11期

关键词：

D O I：

10.1016/0167-5699(96)30061-3

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 (WAS) and X-linked thrombocytopenia are both caused by mutations in the gene coding for the WAS protein (WASP). A database (WASPbase) of human WASP mutations has now been compiled and data from the first 167 unrelated patients are presented.

引用

页码：496 / 502

页数：7

共 33 条

[1]

ALDRICH RA, 1954, PEDIATRICS, V13, P133

[2] Two GTPases, cdc42 and rac, bind directly to a protein implicated in the immunodeficiency disorder Wiskott-Aldrich syndrome [J].