Antithrombin p.Thr147Ala: The First Founder Mutation in People of African Origin Responsible for Inherited Antithrombin Deficiency.

doi:10.1055/s-0040-1716531

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Antithrombin p.Thr147Ala: The First Founder Mutation in People of African Origin Responsible for Inherited Antithrombin Deficiency.

Thrombosis and haemostasis - 1 Feb 2021

Orlando Christelle, de la Morena-Barrio Belén, Pareyn Inge, Vanhoorelbeke Karen, Martínez-Martínez Irene, Vicente Vicente, Corral Javier, Jochmans Kristin, de la Morena-Barrio Maria Eugenia

Abstract excerpt

BACKGROUND: Hereditary antithrombin deficiency is a rare autosomal-dominant disorder predisposing to recurrent venous thromboembolism (VTE). To date, only two founder mutations have been described. OBJECTIVES: We investigated the antithrombin p.Thr147Ala variant, found in 12 patients of African origin. This variant is known as rs2227606 with minor allele frequency of 0.5% in Africans and absent in Europeans. A...

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PMID: 32920809
DOI: 10.1055/s-0040-1716531

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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