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 four novel mutations in BTK from six Chinese families with X-linked agammaglobulinemia.

Clinica chimica acta; international journal of clinical chemistry - 1 Jun 2022

Zhou Qimin, Teng Yanling, Pan Jianyan, Shi Qingxin, Liu Yingdi, Zhang Fangfang, Liang Desheng, Li Zhuo, Wu Lingqian

Abstract excerpt

BACKGROUND: The defect of Bruton's tyrosine kinase (BTK) gene resulted in X-linked agammaglobulinemia (XLA), which is characterized by recurrent bacterial infections, immunodeficiency with low B-cell numbers and immunoglobulin. Diagnosis of XLA depends on clinical phenotype and genetic testing. METHODS: Six unrelated Chinese families with high suspicion of XLA were enrolled in this study. Potential pathogenic...

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 Delete account & data About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Genetic Diseases, X-Linked

Share to Mutation

Share to Protein-Tyrosine Kinases

Source

Identifiers

PMID: 35245483
DOI: 10.1016/j.cca.2022.02.019

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 four novel mutations in BTK from six Chinese families with X-linked agammaglobulinemia.PMID 35245483Read ↗

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

Clinical characteristics and prenatal diagnosis for 22 families in Henan Province of China with X-linked agammaglobulinemia (XLA) related to Bruton's tyrosine kinase (BTK) gene mutations.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 ↗

Clinical characteristics and prenatal diagnosis for 22 families in Henan Province of China with X-linked agammaglobulinemia (XLA) related to Bruton’s tyrosine kinase (BTK) gene mutations.Semantic proximity Read ↗

Case Report: Whole exome sequencing identifies a novel frameshift insertion c.1325dupT (p.F442fsX2) in the tyrosine kinase domain of BTK gene in a young Indian individual with X-linked agammaglobulinemiaSemantic proximity Read ↗

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

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

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

Mutation of the BTK gene and clinical feature of X-linked agammaglobulinemia in mainland China.Semantic proximity Read ↗

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

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

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

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