Associated Papers
Full-length antithrombin frameshift variant with aberrant C-terminus causes endoplasmic reticulum retention with a dominant-negative effect.
Bravo-Pérez C et al.
Jci Insight, 2022
New SERPINC1 gene mutations in patients with antithrombin deficiency: antithrombin Lodz I, II, III, and IV.
Nowak W et al.
Polish Archives of Internal Medicine, 2022
Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture.
Puurunen M et al.
Journal of Thrombosis and Haemostasis : Jth, 2013
Molecular bases of antithrombin deficiency: twenty-two novel mutations in the antithrombin gene.
Picard V et al.
Human Mutation, 2006
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