Article
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.
Orphanet journal of rare diseases - 15 Dec 2025
Lu Yifan, Wang Fengjiao, Yu Dandan, Xie Haixiao, Jin Yanhui, Wang Mingshan, Yang Lihong
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...
Topics
- Humans
- Plasminogen
- Female
- Male
- Mutation
- Pedigree
- Heterozygote
- Adult
- Enzyme-Linked Immunosorbent Assay