The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases

Vetrie, D. et al. (1993) The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. Nature, 361(6409), pp. 226-233. (doi:10.1038/361226a0) (PMID:8380905)

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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.

Item Type:Articles
Status:Published
Refereed:Yes
Glasgow Author(s) Enlighten ID:Vetrie, Dr David
Authors: Vetrie, D., Vořechovský, I., Sideras, P., Holland, J., Davies, A., Flinter, F., Hammarström, L., Kinnon, C., Levinsky, R., Bobrow, M., Smith, C.I. E., and Bentley, D. R.
College/School:College of Medical Veterinary and Life Sciences > Institute of Cancer Sciences
Journal Name:Nature
Publisher:Nature Publishing Group
ISSN:0028-0836
ISSN (Online):1476-4687

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