Article
Thrombotic risk determined by rare and common SERPINA1 variants in a population-based cohort study.
Journal of thrombosis and haemostasis : JTH - 1 Jun 2022
Manderstedt Eric, Halldén Christer, Lind-Halldén Christina, Elf Johan, Svensson Peter J, Engström Gunnar, Melander Olle, Baras Aris, Lotta Luca A, Zöller Bengt
Abstract excerpt
BACKGROUND: Severe alpha-1-antitrypsin deficiency (AATD), phenotype PiZZ, was associated with venous thromboembolism (VTE) in a case-control study. OBJECTIVES: This study aimed to determine the genetic variation in the SERPINA1 gene and a possible thrombotic risk of these variants in a population-based cohort study. PATIENTS/METHODS: The coding sequence of SERPINA1 was analyzed for the Z (rs28929474), S...
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