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 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 mutati...

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Bibliografische Detailangaben

Hauptverfasser:	Yifan Lu, Fengjiao Wang, Dandan Yu, Haixiao Xie, Yanhui Jin, Mingshan Wang, Lihong Yang
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	BMC 2025-12-01
Schriftenreihe:	Orphanet Journal of Rare Diseases
Schlagworte:	PLG Hereditary PLG deficiency In vitro expression Thrombus formation
Online-Zugang:	https://doi.org/10.1186/s13023-025-04122-3
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