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

Deficiencies of antithrombin, protein C and protein S - practical experience in genetic analysis of a large patient cohort.

Thrombosis and haemostasis - 1 Aug 2012

Caspers Michael, Pavlova Anna, Driesen Julia, Harbrecht Ursula, Klamroth Robert, Kadar Janos, Fischer Ronald, Kemkes-Matthes Bettina, Oldenburg Johannes

Abstract excerpt

Deficiencies of natural anticoagulant proteins including antithrombin (AT), protein C (PC) and protein S (PS) are important causes of inherited thrombophilia. This study aimed to report on the practical experience gained in performing genetic analyses of a large cohort of patients with AT, PC and PS deficiencies and to relate this knowledge to clinical application. We genotyped a large cohort of 709 unrelated...

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 Antithrombin III Deficiency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Germany

Share to Protein C

Share to Protein C Deficiency

Share to Protein S

Share to Protein S Deficiency

Share to Thrombophilia

Source

Identifiers

PMID: 22627591
DOI: 10.1160/TH11-12-0875

Genes

PROC
PROS1
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

Deficiencies of antithrombin, protein C and protein S - practical experience in genetic analysis of a large patient cohort.PMID 22627591Read ↗

Genetic characterization of antithrombin, protein C, and protein S deficiencies in Polish patients.Semantic proximity Read ↗

Genetic analysis should be included in clinical practice when screening for antithrombin deficiency.Semantic proximity Read ↗

Quality in molecular biology testing for inherited thrombophilia disorders.Semantic proximity Read ↗

Molecular analysis and genotype-phenotype correlation in patients with antithrombin deficiency from Southern Italy.Semantic proximity Read ↗

Molecular basis of antithrombin deficiency.Semantic proximity Read ↗

Genotype and laboratory and clinical phenotypes of protein s deficiency.Semantic proximity Read ↗

SERPINC1 gene mutations in antithrombin deficiency.Semantic proximity Read ↗

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

[Clinical and genetic analysis of two families with combined defect in antithrombin and protein C genes].Semantic proximity Read ↗

Bridging laboratory assays, genetics, and clinical phenotypes in antithrombin deficiency: Rethinking the diagnostic paradigm.Semantic proximity Read ↗

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

Protein S deficiency: a database of mutations. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis.Semantic proximity Read ↗

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