Novel compound heterozygous mutations in plasminogen (p.Gly568Arg/p.Ala620Thr) impair protein structure and function in type II deficiency: mechanistic insights into a hereditary thrombogenic disorder.

Abstract excerpt

BACKGROUND: Hereditary plasminogen (PLG) deficiency represents an extremely rare autosomal recessive disorder characterized by impaired fibrinolytic capacity resulting from diminished PLG enzymatic activity. In this study, we identify and characterize a novel compound heterozygous PLG mutation clinically associated with cerebral infarction. Our findings demonstrate that structural conformational alterations in...

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