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

[A novel mutation in antithrombin gene results in hereditary antithrombin deficiency].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi - 1 Sept 2006

Zhang Fu-Hua, Ding Qiu-Lan, Wu Jing-Sheng, Zhou Rong-Fu, Wang Xue-Feng, Xu Xiu-Cai

Abstract excerpt

OBJECTIVE: To investigate the antithrombin (AT) activity (AT: A) and AT antigen (AT: Ag) level in a Chinese family with type I antithrombin (AT) deficiency, and to explore the molecular mechanism of AT deficiency. METHODS: Immuno-nephelometry and chromogenic assay were used to detect the plasma level of AT: A and AT: Ag, respectively. Genomic DNA was isolated from the peripheral blood, and all the seven exons and...

Read the complete abstract on PubMed

Topics

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

Share to Antithrombin III Deficiency
Share to Antithrombins

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

Share to Blood Coagulation Tests

Share to Mutation

Share to Pedigree

Share to Polymerase Chain Reaction

Share to Sequence Analysis, DNA

Source

Identifiers

PMID: 17278425

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

[A novel mutation in antithrombin gene results in hereditary antithrombin deficiency].PMID 17278425Read ↗

[A heterozygous point mutation G13328A in antithrombin gene causes thrombosis].Semantic proximity Read ↗

[Two new mutations of AT gene in type I inherited antithrombin deficiency.].Semantic proximity Read ↗

[Antithrombin deficiency due to heterozygous antithrombin gene mutation and a pedigree study].Semantic proximity Read ↗

[Phenotypic and genetic analysis of two pedigrees affected with hereditary antithrombin deficiency].Semantic proximity Read ↗

Analysis of phenotype and gene mutation in three pedigrees with inherited antithrombin deficiency.Semantic proximity Read ↗

[Molecular mechanisms of recurrent venous thrombosis in two pedigrees with type I antithrombin deficiency].Semantic proximity Read ↗

[Clinical and genetic analysis of a pedigree affected with type I hereditary antithrombin deficiency due to a g.2736dupT variant of the AT gene].Semantic proximity Read ↗

Causative genetic mutations for antithrombin deficiency and their clinical background among Japanese patients.Semantic proximity Read ↗

[Molecular mechanisms of antithrombin deficiency caused by novel double heterozygous mutations].Semantic proximity Read ↗

[Discovery and prospects of a novel thrombophilia: antithrombin resistance].Semantic proximity Read ↗

[Clinical and genetic aspects of antithrombin III deficiency and abnormal antithrombin III].Semantic proximity Read ↗

SERPINC1 mutations and thrombotic events in inherited antithrombin deficiency: a study on the han population of East China.Semantic proximity Read ↗

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