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Article

A novel mutation leading to a deletion in the SH3 domain of Bruton's tyrosine kinase.

The Turkish journal of pediatrics - 1 Jan 2000

Mesci Lütfiye, Ozdag Hilal, Turul Tuba, Ersoy Fügen, Tezcan Ilhan, Sanal Ozden

Abstract excerpt

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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Share to Agammaglobulinaemia Tyrosine Kinase
Share to Agammaglobulinemia
Share to Chromosomes, Human, X

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Reverse Transcriptase Polymerase Chain Reaction

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Source

Identifiers

PMID: 17290574

Genes

BTK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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