The gene involved in X-linked agammaglobulinaemia is member of the src family of protein-tyrosine kinases (Reprinted from Nature, vol 391, pg 226, 1993)

被引：0

作者：

Vetrie, David ^{[1
,2
]}

Vorechovsky, Igor ^{[3
]}

Sideras, Paschalis ^{[3
,4
]}

Holland, Jill ^{[1
,2
]}

Davies, Angela ^{[1
,2
]}

Flinter, Frances ^{[1
,2
]}

Hammarstrom, Lennart ^{[3
]}

Kinnon, Christine ^{[5
]}

Levinsky, Roland ^{[5
]}

Bobrow, Martin ^{[1
,2
]}

Smith, C. I. Edvard ^{[3
]}

Bentley, David R. ^{[1
,2
]}

机构：

[1] UMDS, Guys Hosp, Div Med & Mol Genet, London SE1 9RT, England

[2] UMDS, St Thomas Hosp, Div Med & Mol Genet, London SE1 9RT, England

[3] Karolinska Inst, Novum, Ctr Biotechnol, S-14157 Huddinge, Sweden

[4] Umea Univ, Appl Cell & Mol Biol Unit, S-90187 Umea, Sweden

[5] Inst Child Hlth, Mol Immunol Unit, London WC1N 1EH, England

来源：

JOURNAL OF IMMUNOLOGY | 2012年 / 188卷 / 07期

关键词：

TRANSCRIBED SEQUENCES; CLOSE LINKAGE; SH3; DOMAINS; EXPRESSION; SELECTION; FEATURES; IDENTIFICATION; PP60V-SRC; DXS178; YEAST;

D O I：

暂无

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 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：2948 / 2955

页数：8

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