The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases.
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Vetrie D, Vorechovsky I, Sideras P, Holland J, Davies A, Flinter F, Hammarstrom L, Kinnon C, Levinsky R, Bobrow M, et al.
The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases.
Nature. 1993 Jan 21;361(6409):226-33.
- PubMed ID
- 8380905 [ View in PubMed]
- 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.