BTKBASE - A DATABASE OF XLA-CAUSING MUTATIONS

被引：72

作者：

VIHINEN, M

COOPER, MD

DESAINTBASILE, G

FISCHER, A

GOOD, RA

HENDRIKS, RW

KINNON, C

KWAN, SP

LITMAN, GW

NOTARANGELO, LD

OCHS, HD

ROSEN, FS

VETRIE, D

WEBSTER, ADB

ZEGERS, BJM

SMITH, CIE

机构：

[1] KAROLINSKA INST, NOVUM, CTR STRUCT BIOCHEM, S-14157 HUDDINGE, SWEDEN

[2] TURKU UNIV, DEPT BIOCHEM, SF-20500 TURKU, FINLAND

[3] UNIV ALABAMA, HOWARD HUGHES MED INST, BIRMINGHAM, AL 35294 USA

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

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

[6] ERASMUS UNIV ROTTERDAM, DEPT CELL BIOL & GENET, 3000 DR ROTTERDAM, NETHERLANDS

[7] INST CHILD HLTH, MOLEC IMMUNOL UNIT, LONDON WC1N 1EH, ENGLAND

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

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

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

[11] HARVARD UNIV, SCH MED, DEPT PEDIAT, BOSTON, MA 02115 USA

[12] UNITED MED & DENT SCH, DIV MED & MOLEC GENET, LONDON SE1 0RT, ENGLAND

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

[14] WILHEMINA KINDERZIEKENHUIS, 3501 CA UTRECHT, NETHERLANDS

[15] KAROLINSKA INST, NOVUM, DEPT CLIN IMMUNOL, S-14157 HUDDINGE, SWEDEN

[16] KAROLINSKA INST, NOVUM, CTR BIOTECHNOL, S-14157 HUDDINGE, SWEDEN

来源：

IMMUNOLOGY TODAY | 1995年 / 16卷 / 10期

关键词：

D O I：

10.1016/0167-5699(95)80027-1

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the gene coding for Bruton's tyrosine kinase (BTK). A database (BTKbase) of BTK mutations has been compiled, and its use and the resultant information are discussed in this article.

引用

页码：460 / 465

页数：6

共 40 条

[1] MUTATION DETECTION IN THE X-LINKED AGAMMAGLOBULINEMIA GENE, BTK, USING SINGLE-STRAND CONFORMATION POLYMORPHISM ANALYSIS [J].