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 novel Bruton's tyrosine kinase mutations in 10 unrelated subjects with X linked agammaglobulinaemia.

Journal of medical genetics - 1 Jun 1997

Brooimans R A, van den Berg A J, Rijkers G T, Sanders L A, van Amstel J K, Tilanus M G, Grubben M J, Zegers B J

Abstract excerpt

Mutations of the Bruton's tyrosine kinase (Btk) gene cause X linked agammaglobulinaemia (XLA). This inherited immunodeficiency disease causes an arrest in B cell differentiation of pre-B cells to mature B cells. In this study we report the characterisation of mutations in the Btk gene in 10 unrelated XLA families. The screening approach we used was based on reverse transcriptase PCR and direct cycle sequencing of...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Base Sequence

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA Primers

Share to Genetic Linkage

Share to Mutation

Share to Phenotype

Share to Polymerase Chain Reaction

Source

Open in PubMed Open full text

Identifiers

PMID: 9192269
DOI: 10.1136/jmg.34.6.484
PMCID: PMC1050972

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of novel Bruton's tyrosine kinase mutations in 10 unrelated subjects with X linked agammaglobulinaemia.PMID 9192269Read ↗

Identification of the bruton tyrosine kinase (BTK) gene mutations in 20 Australian families with X-linked agammaglobulinemia (XLA).Semantic proximity Read ↗

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

Molecular and structural characterization of five novel mutations in the Bruton's tyrosine kinase gene from patients with X-linked agammaglobulinemia.Semantic proximity Read ↗

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

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

Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis.Semantic proximity Read ↗

Mutation analysis of the Bruton's tyrosine kinase gene in X-linked agammaglobulinemia: identification of a mutation which affects the same codon as is altered in immunodeficient xid miceSemantic proximity Read ↗

Identification of Bruton's tyrosine kinase (Btk) gene mutations and characterization of the derived proteins in 35 X-linked agammaglobulinemia families: a nationwide study of Btk deficiency in Japan.Semantic proximity Read ↗

Mutations of the Btk gene in 12 unrelated families with X-linked agammaglobulinemia in Japan.Semantic proximity Read ↗

Molecular analysis of Bruton's tyrosine kinase gene in Spain.Semantic proximity Read ↗

Bruton's tyrosine kinase mutations in 8 Chinese families with X-linked agammaglobulinemia.Semantic proximity Read ↗

Bruton tyrosine kinase gene mutations in Argentina.Semantic proximity Read ↗

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