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Article

A deep intronic BTK variant underlies X-linked agammaglobulinemia.

Journal of clinical immunology - 5 Apr 2024

Tateishi Shoichiro, Shimizu Shoichi, Moriya Kunihiko, Kanegane Hirokazu, Imai Kohsuke

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 38578404
DOI: 10.1007/s10875-024-01694-w

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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A deep intronic BTK variant underlies X-linked agammaglobulinemia.PMID 38578404Read ↗

The spectrum of mutations in Btk that cause X-linked agammaglobulinemia.Semantic proximity Read ↗

Identification by whole-exome sequencing of novel mutation c.64C > G in the BTK gene of a fetus with X-linked agammaglobulinemia.Semantic proximity Read ↗

[Genetic study of an X-linked agammaglobulinemia pedigree caused by an BTK mutation].Semantic proximity Read ↗

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X-linked agammaglobulinemia: lack of mature B lineage cells caused by mutations in the Btk kinase.Semantic proximity Read ↗

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

X-linked agammaglobulinemia in two siblings with a novel mutation in the BTK gene who presented with polyarticular juvenile idiopathic arthritis.Semantic proximity Read ↗

Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia: Report from Shanghai, China (2000-2015).Semantic proximity Read ↗

Identification of four novel mutations in BTK from six Chinese families with X-linked agammaglobulinemia.Semantic proximity Read ↗

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

BTK gene mutation in two non-identical twins with X-linked agammaglobulinemia associated with polyarticular juvenile idiopathic arthritis.Semantic proximity Read ↗

Whole Genome Sequencing identifies novel structural variant in a large Indian family affected with X - linked agammaglobulinemiaSemantic proximity Read ↗

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