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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| _version_ | 1850025269856829440 |
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| author | Lütfiye Mesci Hilal Ozdag Tuba Turul Fügen Ersoy Ilhan Tezcan Ozden Sanal |
| author_facet | Lütfiye Mesci Hilal Ozdag Tuba Turul Fügen Ersoy Ilhan Tezcan Ozden Sanal |
| author_sort | Lütfiye Mesci |
| collection | DOAJ |
| description |
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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| format | Article |
| id | doaj-art-22b65d3faa0e426cb463b9a2cf1bbaca |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2006-10-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-22b65d3faa0e426cb463b9a2cf1bbaca2025-08-20T03:00:54ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212006-10-01484A novel mutation leading to a deletion in the SH3 domain of Bruton's tyrosine kinaseLütfiye Mesci0Hilal OzdagTuba TurulFügen ErsoyIlhan TezcanOzden SanalImmunology Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. 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. https://turkjpediatr.org/article/view/2661 |
| spellingShingle | Lütfiye Mesci Hilal Ozdag Tuba Turul Fügen Ersoy Ilhan Tezcan Ozden Sanal A novel mutation leading to a deletion in the SH3 domain of Bruton's tyrosine kinase The Turkish Journal of Pediatrics |
| title | A novel mutation leading to a deletion in the SH3 domain of Bruton's tyrosine kinase |
| title_full | A novel mutation leading to a deletion in the SH3 domain of Bruton's tyrosine kinase |
| title_fullStr | A novel mutation leading to a deletion in the SH3 domain of Bruton's tyrosine kinase |
| title_full_unstemmed | A novel mutation leading to a deletion in the SH3 domain of Bruton's tyrosine kinase |
| title_short | A novel mutation leading to a deletion in the SH3 domain of Bruton's tyrosine kinase |
| title_sort | novel mutation leading to a deletion in the sh3 domain of bruton s tyrosine kinase |
| url | https://turkjpediatr.org/article/view/2661 |
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