The genomic structure of human BTK, the defective gene in X-linked agammaglobulinemia

@article{Rohrer1994TheGS,
  title={The genomic structure of human BTK, the defective gene in X-linked agammaglobulinemia},
  author={J. Rohrer and Ornella Parolini and Mary Ellen Conley and John William Belmont},
  journal={Immunogenetics},
  year={1994},
  volume={40},
  pages={319-324}
}
It has recently been demonstrated that mutations in the gene for Bruton's tyrosine kinase (BTK) are responsible for X-linked agammaglobulinemia. Southern blot analysis and sequencing of cDNA were used to document deletions, insertions, and single base pair substitutions. To facilitate analysis ofBTK regulation and to permit the development of assays that could be used to screen genomic DNA for mutations inBTK, we determined the genomic organization of this gene. Subcloning of a cosmid and a… CONTINUE READING
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Mutation analysis of the Bruton's tyrosine kinase gene in Xlinked agammaglobulinemia: identification of a mutation which affects the same codon as is altered in immunodeficient xid mice

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