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 Btk mutations in 20 unrelated patients with X-linked agammaglobulinaemia (XLA).

Human molecular genetics - 1 Apr 1995

Jin H, Webster A D, Vihinen M, Sideras P, Vorechovsky I, Hammarstróm L, Bernatowska-Matuszkiewicz E, Smith C I, Bobrow M, Vetrie D

Abstract excerpt

X-linked agammaglobulinaemia (XLA) is an inherited immunodeficiency resulting from mutations in the gene for a cytoplasmic protein tyrosine kinase (Btk). We have utilised reverse-transcription-based PCR in combination with the chemical cleavage and mismatch technique (CCM) to screen for Btk mutations in 42 unrelated patients having classical XLA or 'leaky' XLA-like phenotypes. A variety of mutations, including...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acids
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 Molecular Sequence Data

Share to Mutation

Share to RNA, Messenger

Share to X Chromosome

Source

Identifiers

PMID: 7633420
DOI: 10.1093/hmg/4.4.693

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 Btk mutations in 20 unrelated patients with X-linked agammaglobulinaemia (XLA).PMID 7633420Read ↗

Identification of nine novel mutations in the Bruton's tyrosine kinase gene in X-linked agammaglobulinaemia patients.Semantic proximity Read ↗

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

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

Identification of Bruton tyrosine kinase mutations in 12 Chinese patients with X-linked agammaglobulinaemia by long PCR-direct sequencing.Semantic proximity Read ↗

An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency.Semantic proximity Read ↗

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

Clinical and genetic profiles of patients with X-linked agammaglobulinemia from southeast Turkey: Novel mutations in BTK gene.Semantic proximity Read ↗

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

Spectrum of BTK gene mutations in Vietnamese patients with X-linked agammaglobulinemia.Semantic proximity Read ↗

BTKbase, mutation database for X-linked agammaglobulinemia (XLA)Semantic proximity Read ↗

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