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Article

An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency.

FEBS letters - 13 Jun 1994

Duriez B, Duquesnoy P, Dastot F, Bougnères P, Amselem S, Goossens M

Abstract excerpt

X-linked agammaglobulinemia (XLA) is an inherited immunodeficiency disease associated with a block in differentiation from pre-B to B cells. The XLA gene encodes a 659 amino acids cytoplasmic protein tyrosine kinase named btk (Bruton's tyrosine kinase). The few btk gene alterations so far reported in XLA patients are heterogenous and distributed in all domains of the btk protein. They appear to be responsible for...

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Identifiers

PMID: 8013627
DOI: 10.1016/0014-5793(94)00457-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency.PMID 8013627Read ↗

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X-Linked Agammaglobulinemia A Clinical and Molecular AnalysisSemantic proximity Read ↗

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Identification of 22 novel BTK gene variants in B cell deficiency with hypogammaglobulinemia.Semantic proximity Read ↗

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Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia.Semantic proximity Read ↗

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Spectrum of BTK gene mutations in Vietnamese patients with X-linked agammaglobulinemia.Semantic proximity Read ↗

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