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

doi:10.1016/0014-5793(94)00457-9

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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...

Topics

Agammaglobulinaemia Tyrosine Kinase
Agammaglobulinemia
B-Lymphocytes
Base Sequence
Cell Line, Transformed
Child, Preschool
Exons
Genetic Linkage
Growth Hormone
Herpesvirus 4, Human
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Introns

Male

Molecular Sequence Data

Mutation

Polymerase Chain Reaction

Protein-Tyrosine Kinases

RNA Splicing

Source

Open in PubMed

Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8013627-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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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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