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Nature. 1993 Jan 21;361(6409):226-33.

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

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Division of Medical and Molecular Genetics, UMDS, Guy's Hospital, London, UK.

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  • Nature 1993 Jul 22;364(6435):362.


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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