A novel mutation leading to a deletion in the SH3 domain of Bruton's tyrosine kinase
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...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Hacettepe University Institute of Child Health
2006-10-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/2661 |
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