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 |
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Status: | Published |
Refereed: | Yes |
Glasgow Author(s) Enlighten ID: | Vetrie, Professor 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 > School of Cancer Sciences |
Journal Name: | Nature |
Publisher: | Nature Publishing Group |
ISSN: | 0028-0836 |
ISSN (Online): | 1476-4687 |
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