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THE GENE INVOLVED IN X-LINKED AGAMMAGLOBULINEMIA IS A MEMBER OF THE SRC FAMILY OF PROTEIN-TYROSINE KINASES
Author(s): VETRIE D, VORECHOVSKY I, SIDERAS P, HOLLAND J, DAVIES A, FLINTER F, HAMMARSTROM L, KINNON C, LEVINSKY R, BOBROW M, SMITH CIE, BENTLEY DR
Source: NATURE    Volume: 361    Issue: 6409    Pages: 226-233    Published: JAN 21 1993  
Times Cited: 790     References: 62     
Abstract: 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.
Document Type: Article
Language: English
Reprint Address: VETRIE, D (reprint author), UMDS GUYS & ST THOMASS HOSP, DIV MED & MOLEC GENET, GUYS TOWER, LONDON SE1 9RT, ENGLAND
Addresses:
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
Publisher: MACMILLAN MAGAZINES LTD, PORTERS SOUTH, 4 CRINAN ST, LONDON, ENGLAND N1 9XW
Subject Category: Multidisciplinary Sciences
IDS Number: KH614
ISSN: 0028-0836
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