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X-Linked Agammaglobulinemia A Clinical and Molecular Analysis

1 Nov 1996

Abstract excerpt

X-linked agammaglobulinemia (XLA), characterized by a profound deficiency of B lymphocytes due to an arrest in B lymphocyte development, is caused by mutations in the gene encoding Btk (Bruton tyrosine kinase). The BTK gene has been cloned and the genomic organization determined. BTK codes for 19 exons and is expressed in all hematopoietic cell lineages but is selectively down-regulated in T lymphocytes and...

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PMID: 8982147
DOI: 10.1097/00005792-199611000-00001

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X-Linked Agammaglobulinemia A Clinical and Molecular AnalysisPMID 8982147Read ↗

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