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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.

    Vetrie D, Vorechovský I, Sideras P, Holland J, Davies A, Flinter F, Hammarström L, Kinnon C, Levinsky R, Bobrow M, et al.

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

    Erratum in:

    • Nature 1993 Jul 22;364(6435):362.

    Comment in:

    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.

    PMID: 8380905 [PubMed - indexed for MEDLINE]

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