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

CONCLUSION: Antithrombin p.Thr147Ala, responsible for antithrombin type II heparin binding site deficiency, is the first founder mutation reported in people of African ancestry. This study further emphasizes the limitations of commercial methods to diagnose this specific subtype. PMID: 32920809 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/32920809?dopt=Abstract

Source: Thrombosis and Haemostasis - September 12, 2020 Category: Hematology Authors: Orlando C, de la Morena-Barrio B, Pareyn I, Vanhoorelbeke K, Martínez-Martínez I, Vicente V, Corral J, Jochmans K, de la Morena-Barrio ME Tags: Thromb Haemost Source Type: research