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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 the Btk locus has allowed us to characterize these mutations in detail and to identify four different types of...

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Identifiers

PMID: 9884350
DOI: 10.1006/clim.1998.4629

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

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