A novel mutation leading to a deletion in the SH3 domain of Bruton's tyrosine kinase |
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Authors: | Mesci Lütfiye Ozdag Hilal Turul Tuba Ersoy Fügen Tezcan Ilhan Sanal Ozden |
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Affiliation: | Immunology Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. |
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Abstract: | 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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