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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
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