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Table 2 Results of Btk mutational analysis

From: X-linked agammaglobulinemia diagnosed late in life: case report and review of the literature

  Patient 1 Patient 2
Nucleotide change c.83G>A c.1223T>C
Amino acid change p.Arg28His p.Leu408Pro
Domain PH SH1
Zygosity Hemizygous Hemizygous
  1. PH, Pleckstrin Homology; SH1, Src homology 1