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

Four novel and three recurrent mutations of the BTK gene and pathogenic effects of putative splice mutations.

Journal of human genetics - 1 Jan 2006

Wattanasirichaigoon Duangrurdee, Benjaponpitak Suwat, Techasaensiri Chonnamet, Kamchaisatian Wasu, Vichyanond Pakit, Janwityanujit Sucheela, Choubtum Lulin, Sirinavin Sayomporn

Abstract excerpt

X-linked agammaglobulinemia is caused by mutations in the human BTK gene, leading to recurrent pyogenic infections. We describe four novel and three known BTK-mutations in seven patients from seven (six Thai and one Burmese) families. All but one were sporadic cases. Patients 1 and 2 had recurrent mutations in exon 10 (R288W) and exon 17 (R562W), respectively. Patient 3, a previously healthy individual who...

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

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Alternative Splicing

Share to Chromosomes, Human, X

Share to Genetic Linkage

Share to Protein-Tyrosine Kinases

Share to X Chromosome Inactivation

Source

Identifiers

PMID: 16951917
DOI: 10.1007/s10038-006-0052-y

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

Four novel and three recurrent mutations of the BTK gene and pathogenic effects of putative splice mutations.PMID 16951917Read ↗

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

X-linked agammaglobulinemia in a 10-year-old boy with a novel non-invariant splice-site mutation in Btk gene.Semantic proximity Read ↗

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

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

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

A deep intronic BTK variant underlies X-linked agammaglobulinemia.Semantic proximity Read ↗

Clinical manifestations and BTK gene defect in 4 unrelated Taiwanese families with Bruton's disease.Semantic proximity Read ↗

Distinct Clinical Features and Novel Mutations in Taiwanese Patients With X-Linked Agammaglobulinemia.Semantic proximity Read ↗

Large BTK gene mutation in a child with X-linked agammaglobulinemia and polyarthritis.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 ↗

Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia.Semantic proximity Read ↗

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