BTKbase: XLA-mutation registry

被引：39

作者：

Vihinen, M

Brooimans, RA

Kwan, SP

Lehväslaiho, H

Litman, GW

Ochs, HD

Resnick, I

Schwaber, JH

Vorchovsky, I

Smith, CIE

机构：

[1] WILHELMINA CHILDRENS HOSP, DEPT IMMUNOL, NL-3501 CA UTRECHT, NETHERLANDS

[2] RUSH MED SCH, DEPT IMMUNOL, CHICAGO, IL 60612 USA

[3] CSC SCI COMP, ESPOO 02101, FINLAND

[4] UNIV S FLORIDA, ALL CHILDRENS HOSP, COLL MED, DEPT PEDIAT, ST PETERSBURG, FL 33701 USA

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

[6] CENT REPUBLICAN PAEDIAT HOSP, RES INST PAEDIAT HEMATOL, DEPT CLIN IMMUNOL, MOSCOW 117513, RUSSIA

[7] MED COLL PENN & HAHNEMANN UNIV, PHILADELPHIA, PA 19102 USA

[8] ROYAL FREE HOSP, SCH MED, DEPT CLIN IMMUNOL, LONDON NW3 2PF, ENGLAND

[9] KAROLINSKA INST, NOVUM, CTR BIOTECHNOL, DEPT BIOSCI, S-14157 HUDDINGE, SWEDEN

[10] HUDDINGE UNIV HOSP, KAROLINSKA INST, DEPT IMMUNOL MICROBIOL PATHOL & INFECT DIS, S-14186 HUDDINGE, SWEDEN

来源：

IMMUNOLOGY TODAY | 1996年 / 17卷 / 11期

关键词：

D O I：

10.1016/0167-5699(96)30058-3

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the gene coding for Bruton's agammaglobulinemia tyrosine kinase (Btk). A new edition of the database (BTKbase) of Btk mutations has been compiled containing 282 patient entries representing 175 unique molecular events.

引用

页码：502 / 506

页数：5

共 36 条

[1]

Bykowsky MJ, 1996, AM J HUM GENET, V58, P477

[2] BINDING OF BRUTONS TYROSINE KINASE TO FYN, LYN, OR HCK THROUGH A SRC HOMOLOGY-3 DOMAIN-MEDIATED INTERACTION [J].