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

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

Medicine - 4 Nov 2022

Hou Xinwei, Zhang Kairu, Wu Qian, Zhang Mingyuan, Li Li, Li Hongwei

Abstract excerpt

RATIONALE: Inherited antithrombin deficiency (ATD) is a major cause of thrombotic deficiency. Genetic testing is of great value in the diagnosis of hereditary thrombophilia. Herein, we report a case of inherited ATD admitted to our hospital. We include the results of genealogy and discuss the significance of genetic testing in high-risk groups of hereditary thrombophilia. PATIENT CONCERNS: A 16-year-old male...

Read the complete abstract on PubMed

Topics

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

Share to Anticoagulants
Share to Antithrombin III
Share to Antithrombin III Deficiency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Antithrombins

Share to Heparin

Share to Thrombophilia

Share to Thrombosis

Share to Warfarin

Source

Open in PubMed Open full text

Identifiers

PMID: 36343066
DOI: 10.1097/MD.0000000000031240
PMCID: PMC9646493

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

Inherited antithrombin deficiency caused by a mutation in the SERPINC1 gene: A case report.PMID 36343066Read ↗

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

Atypical pulmonary thromboembolism caused by the mutation site SERPINC1 of the antithrombin III gene: A case report.Semantic proximity Read ↗

Impact of SERPINC1 mutation on thrombotic phenotype in children with congenital antithrombin deficiency-first analysis of the International Society on Thrombosis and Haemostasis pediatric antithrombin deficiency database and biorepository.Semantic proximity Read ↗

[Clinical and genetic analysis of pulmonary embolism induced by a novel gene mutation of the antithrombin Ⅲ gene].Semantic proximity Read ↗

Favourable outcome of multisystem venous thrombosis associated with novel SERPINC1 mutation after treated with dabigatran: a case report and literature reviewSemantic proximity Read ↗

A novel splice-site mutation c.42-2A>T (IVS1-2A>T) of SERPINC1 in a Korean family with inherited antithrombin deficiency.Semantic proximity Read ↗

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

A novel mutation of SERPINC1 in a patient presenting as recurrent cerebral sinus venous and portal vein thrombosis.Semantic proximity Read ↗

Clinical and functional characterization of rare compound heterozygous mutations in the SERPINC1 gene causing severe thrombophilia.Semantic proximity Read ↗

A comprehensive study of antithrombin deficiency in a large cohort of Chinese thrombophilia pedigrees: uncovering 4 SERPINC1 pathogenic variants merely impaired progressive activities.Semantic proximity Read ↗

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