[Compound heterozygous plasminogen mutations causing hereditary plasminogen deficiency: a family study and mechanistic analysis].

PubMed 2026 Open access

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Authors: Y F Lu, D D Yu, Q Y Xu, F J Wang, L Y Qin, M S Wang, L L Yang
DOI: 10.3760/cma.j.cn121090-20250317-00137
Cited by: 0

Abstract

The heterozygous missense mutations p.Gly568Arg and p. Ala620Thr are associated with decreased PLG∶A in the family proband and may cause functional impairment by altering protein conformation.

Fields of Study & Subjects

Blood Coagulation and Thrombosis Mechanisms Protease and Inhibitor Mechanisms Coagulation Bradykinin Polyphosphates and Angioedema

Publication details

Journal / source
PubMed
Volume
47
Issue
1
Pages
63–68
Publication date
14 January 2026
Language
ZH