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Article

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

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Dec 2011

Jang Moon Ju, Lee Jeong-Guil, Chong So Young, Huh Ji Young, Jang Mi-Ae, Kim Hee-Jin, Oh Doyeun

Abstract excerpt

Inherited antithrombin (AT) deficiency (OMIM 107300) is an autosomal dominant disorder and causes a 20-fold increase in the risk of venous thromboembolism. Herein, we describe a case of a novel splice-site mutation in the SERPINC1 gene in a Korean patient with inherited AT deficiency. The patient...

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Source

Identifiers

PMID: 21885952
DOI: 10.1097/MBC.0b013e32834a7e17

Genes

SERPINC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21885952-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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