THE GENE INVOLVED IN X-LINKED AGAMMAGLOBULINEMIA IS A MEMBER OF THE SRC FAMILY OF PROTEIN-TYROSINE KINASES

被引：1240

作者：

VETRIE, D

VORECHOVSKY, I

SIDERAS, P

HOLLAND, J

DAVIES, A

FLINTER, F

HAMMARSTROM, L

KINNON, C

LEVINSKY, R

BOBROW, M

SMITH, CIE

BENTLEY, DR

机构：

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

[2] UMEA UNIV, APPL CELL & MOLEC BIOL UNIT, S-90187 UMEA, SWEDEN

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

来源：

NATURE | 1993年 / 361卷 / 6409期

基金：

英国惠康基金;

关键词：

D O I：

10.1038/361226a0

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

X-linked agammaglobulinaemia (XLA) is a human immunodeficiency caused by failure of pre-B cells in the bone marrow to develop into circulating mature B cells. A novel gene has been isolated which maps to the XLA locus, is expressed in B cells, and shows mutations in families with the disorder. The gene is a member of the src family of proto-oncogenes which encode protein-tyrosine kinases. This is, to our knowledge, the first evidence that mutations in a src-related gene are involved in human genetic disease.

引用

页码：226 / 233

页数：8

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