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  • Title: Revised exon-intron structure of human JAK3 locus.
    Author: Brooimans RA, van der Slot AJ, van den Berg AJ, Zegers BJ.
    Journal: Eur J Hum Genet; 1999; 7(7):837-40. PubMed ID: 10573019.
    Abstract:
    Jak3, a member of the Janus tyrosine kinase family is an intracellular kinase functionally coupled to cytokine receptors that share a common gamma chain (gamma c). Defects in the gamma c or Jak3 result in T-B + severe combined immunodeficiency (SCID). In order to clarify discrepancies between earlier reported genomic organisations of human JAK3, the present study was undertaken to redefine its whole exon-intron structure. The genomic structure of human JAK3 consists of 23 exons and 22 introns, and shows strong homology with the organisation of the murine JAK3 locus. The exon-intron sequences provided in this report can be used to facilitate the identification of new Jak3-deficient SCID patients, including prenatal diagnosis.
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