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...

ver descrição completa

Detalhes bibliográficos

Principais autores:	Yifan Lu, Fengjiao Wang, Dandan Yu, Haixiao Xie, Yanhui Jin, Mingshan Wang, Lihong Yang
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2025-12-01
coleção:	Orphanet Journal of Rare Diseases
Assuntos:	PLG Hereditary PLG deficiency In vitro expression Thrombus formation
Acesso em linha:	https://doi.org/10.1186/s13023-025-04122-3
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!