X-linked agammaglobulinemia (XLA) is a primary B cell immunodeficiency disorder, caused by a defect in the Bruton tyrosine kinase (BTK) gene. Here, we describe a novel four base pair mutation (838delGAGT) in intron 9 of the BTK gene leading to the skipping of exon 9 in a 2.5-year-old boy with this disorder.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
tyrosine kinase
8
btk gene
8
novel mutation
4
mutation leading
4
leading deletion
4
deletion sh3
4
sh3 domain
4
domain bruton's
4
bruton's tyrosine
4
kinase x-linked
4
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!