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

被引：1250
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.
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收藏
页码：226 / 233
页数：8
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