A novel mutation leading to a deletion in the SH3 domain of Bruton's tyrosine kinase
Mesci, L.üt.; Ozdag, H.; Turul, T.; Ersoy, F.üg.; Tezcan, I.; Sanal, O.
Turkish Journal of Pediatrics 48(4): 362-364
2006
ISSN/ISBN: 0041-4301 PMID: 17290574 Document Number: 604674
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.
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