Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Identification of a new Bruton's tyrosine kinase (BTK) mutation associated with a mild phenotype in a child with X-linked agammaglobulinemia (XLA).

Clinical and laboratory haematology - 1 Apr 2000

Staehelin F, Kühne T

Abstract excerpt

This study reports a new X-linked agammaglobulinemia (XLA) mutation and its phenotypic features in a 6(1/2)-year-old boy. Different clinically defined subtypes of XLA may exist according to different genetic alterations and to other defect signalling molecules or pathways of B cell maturation.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Agammaglobulinaemia Tyrosine Kinase
Share to Agammaglobulinemia
Share to Frameshift Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Immunoglobulins, Intravenous

Share to Polymorphism, Single-Stranded Conformational

Share to Protein-Tyrosine Kinases

Share to Sex Chromosome Aberrations

Share to X Chromosome

Source

Identifiers

PMID: 10792406
DOI: 10.1046/j.1365-2257.2000.00295.x

Genes

BTK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of a new Bruton's tyrosine kinase (BTK) mutation associated with a mild phenotype in a child with X-linked agammaglobulinemia (XLA).PMID 10792406Read ↗

Characterization of Bruton's tyrosine kinase mutations in Mexican patients with X-linked agammaglobulinemia.Semantic proximity Read ↗

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

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

A genotype-phenotype correlation study in a group of 54 patients with X-linked agammaglobulinemia.Semantic proximity Read ↗

Characterization of novel Bruton's tyrosine kinase gene mutations in Central European patients with agammaglobulinemia.Semantic proximity Read ↗

Delayed diagnosis in X-linked agammaglobulinemia and its relationship to the occurrence of mutations in BTK non-kinase domains.Semantic proximity Read ↗

X-linked agammaglobulinemia: Twenty years of single-center experience from North West India.Semantic proximity Read ↗

X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations.Semantic proximity Read ↗

X-linked agammaglobulinemia (XLA): a genetic tyrosine kinase (Btk) disease.Semantic proximity Read ↗

Bruton tyrosine kinase (BTK) in X-linked agammaglobulinemia (XLA).Semantic proximity Read ↗

Clinical features and mutational analysis of X-linked agammaglobulinemia patients in MalaysiaSemantic proximity Read ↗

Identification of mutations of Bruton's tyrosine kinase gene (BTK) in Brazilian patients with X-linked agammaglobulinemia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.