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

  • Vetrie D
  • Vořechovský I
  • Sideras P
 et al. 
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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.

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