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

[Detection of Bruton's tyrosine kinase gene mutations and clinical analysis of 6 patients with X-linked agammaglobulinemia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2014

Zhang Xiaomin, Li Hong, Li Qiang, Gao Ju, Shi Xiaoqing

Abstract excerpt

OBJECTIVE: To explored the relationship between genotype of Bruton's tyrosine kinase (BTK) gene and X-linked agammaglobulinemia (XLA). METHODS: Six patients who were clinically suspected as XLA based on immunological results were studied. Peripheral blood samples were collected for DNA extraction. The 19 exons and exon-intron boundaries of the BTK gene were amplified by PCR, and the products were directly...

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 Child, Preschool

Share to Codon, Nonsense

Share to Genetic Diseases, X-Linked

Share to Mutation, Missense

Share to Protein-Tyrosine Kinases

Source

Identifiers

PMID: 24510558
DOI: 10.3760/cma.j.issn.1003-9406.2014.01.007

Genes

BTK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Detection of Bruton's tyrosine kinase gene mutations and clinical analysis of 6 patients with X-linked agammaglobulinemia].PMID 24510558Read ↗

[Gene diagnosis of X-linked agammaglobulinemia].Semantic proximity Read ↗

[Mutation analysis and prenatal diagnosis in families of X-linked agammaglobulinemia caused by BTK gene mutation].Semantic proximity Read ↗

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

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

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

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

[Primary immunodeficiencies and Bruton's disease genetic analysis: which prospects offers this genetic diagnosis?].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 ↗

Clinical and genetic profiles of patients with X-linked agammaglobulinemia from southeast Turkey: Novel mutations in BTK gene.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 four novel mutations in BTK from six Chinese families 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 ↗

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