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Article

Analysis of phenotype and gene mutation in three pedigrees with inherited antithrombin deficiency.

Journal of clinical laboratory analysis - 1 Nov 2022

Li Min, Jiang Shuting, Liu Siqi, Jin Yanhui, Wang Mingshan

Abstract excerpt

BACKGROUND: Inherited AT deficiency is an autosomal-dominant thrombophilic disorder usually caused by various SERPINC1 defects associated with a high risk of recurrent venous thromboembolism. In this article, the phenotype, gene mutation, and molecular pathogenic mechanisms were determined in three pedigrees with inherited AT deficiency. METHODS: Coagulation indices were examined on STAGO STA-R-MAX analyzer. The...

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Identifiers

PMID: 36268972
DOI: 10.1002/jcla.24732
PMCID: PMC9701880

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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.

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