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Two heterozygous mutations associated with type I protein C deficiency in two Chinese independent families.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Dec 2021

Xu Qiyu, Wang Mingshan, Jin Yanhui, Liu Siqi, Luo Shasha, Yang Lihong

Abstract excerpt

To explore the pathogenesis of protein C (PC) deficiency in two independent families by mutations detection and bioinformatics analysis. The PC activity (PC:A) and PC antigen (PC:Ag) were detected by chromogenic substrate and ELISA, respectively. The PROC sequencing was performed to identify the mutational sites. The molecular pathogenesis of the mutations were studied by the conservation, bioinformatics and...

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PMID: 34261859
DOI: 10.1097/MBC.0000000000001065

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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