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

Antithrombin Katowice: exon 1 deletion in the SERPINC1 gene associated with type I antithrombin deficiency.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Jan 2015

Cieśla Marek, Wypasek Ewa, Corral Javier, Alhenc-Gelas Martine, Undas Anetta

Abstract excerpt

Type I antithrombin deficiency is an autosomal dominant disorder associated with thromboembolic complications mainly related to single-point mutations in SERPINC1, the gene encoding antithrombin. Chromosomal rearrangements have been found in up to 10% of cases with type I antithrombin deficiency. We report here the first heterozygous deletion of SERPINC1 exon 1 identified in a 44-year-old man with type I...

Read the complete abstract on PubMed

Topics

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

Share to Antithrombin III
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fibrin

Share to Gene Deletion

Share to Mutation

Share to Pulmonary Embolism

Source

Identifiers

PMID: 25083771
DOI: 10.1097/MBC.0000000000000182

Genes

SERPINC1

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

Antithrombin Katowice: exon 1 deletion in the SERPINC1 gene associated with type I antithrombin deficiency.PMID 25083771Read ↗

Detection and characterisation of large SERPINC1 deletions in type I inherited antithrombin deficiencySemantic proximity Read ↗

SERPINC1 gene mutations in antithrombin deficiency.Semantic proximity Read ↗

New SERPINC1 gene mutations in patients with antithrombin deficiency: antithrombin Lodz I, II, III, and IV.Semantic proximity Read ↗

Identification of a New Mechanism of Antithrombin Deficiency Hardly Detected by Current Methods: Duplication of SERPINC1 Exon 6.Semantic proximity Read ↗

Novel SERPINC1 variants in hereditary antithrombin deficiency: first pathogenic deep-intronic variant, revealed by multiple genomic and transcriptomic approaches.Semantic proximity Read ↗

New genetic variant in the SERPINC1 gene: hereditary Antithrombin deficiency case report, familial thrombosis and considerations on genetic counseling.Semantic proximity Read ↗

Molecular basis of antithrombin deficiency.Semantic proximity Read ↗

Molecular structural analysis of a novel and de-novo mutation in the SERPINC1 gene associated with type 1 antithrombin deficiency.Semantic proximity Read ↗

A series of 10 Polish patients with thromboembolic events and antithrombin deficiencySemantic proximity Read ↗

Regulatory regions of SERPINC1 gene: identification of the first mutation associated with antithrombin deficiency.Semantic proximity Read ↗

Inherited antithrombin deficiency caused by a mutation in the SERPINC1 gene: A case report.Semantic proximity Read ↗

Identification of new molecular mechanisms of antithrombin deficiency: six new SERPINC1 variants in a Polish cohort.Semantic proximity Read ↗

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