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Article

Unusual mutations in Btk: an insertion, a duplication, an inversion, and four large deletions.

Clinical immunology (Orlando, Fla.) - 1 Jan 1999

Rohrer J, Minegishi Y, Richter D, Eguiguren J, Conley M E

Abstract excerpt

Mutations in Bruton's tyrosine kinase (Btk) result in the immunodeficiency X-linked agammaglobulinemia (XLA). In a previous study of 101 patients with presumed XLA, we identified seven patients with large genomic alterations in Btk. The recent completion of 100 kb of contiguous DNA sequence at th...

Topics

Agammaglobulinaemia Tyrosine Kinase
Agammaglobulinemia
Base Sequence
Chromosome Inversion
DNA
DNA Transposable Elements
Exons
Gene Deletion
Gene Duplication
Genetic Linkage
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Polymorphism, Single-Stranded Conformational

Protein-Tyrosine Kinases

Source

Identifiers

PMID: 9884350
DOI: 10.1006/clim.1998.4629

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9884350-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Unusual mutations in Btk: an insertion, a duplication, an inversion, and four large deletions.PMID 9884350Read ↗

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