|
Results of Btk mutational analysis |
||
| 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 |
|
PH, Pleckstrin Homology; SH1, Src homology 1 | ||
Sigmon et al. Clinical and Molecular Allergy 2008 6:5 doi:10.1186/1476-7961-6-5 |
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