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

Medicine - 2 Aug 2024

Lin Miaoyuan, Sun Xishi, Wu Jun

Abstract excerpt

BACKGROUND: Deficiency of natural anticoagulant antithrombin was first reported as a genetic risk factor for venous thromboembolism, antithrombin III (AT III) is encoded by the serpin family C member 1 (SERPINC1) gene, consisting of 432 amino acids, including 3 disulfide bonds and 4 possible glycosylation sites. Studies have shown that hereditary AT deficiency increases the incidence of venous thromboembolism by...

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PMID: 39093784
DOI: 10.1097/MD.0000000000039175
PMCID: PMC11296409

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