Article

Molecular and clinical characterization of two independent Chinese families with protein C deficiency

2024-06-04

Abstract excerpt

<title>Abstract</title> <p>This study aims to preliminarily investigate the clinical characterization and molecular pathogenic basis of hereditary protein C (PC) deficiency in two independent Chinese families. The PC activity (PC:A) was tested using the chromogenic substrate, and PC antigen (PC:Ag) was detected via enzyme-linked immunosorbent assay (ELISA). To identify the mutation sites, nine exons of the <itali...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: e1585cf6-d214-5b03-a4da-4edc9728a7e9
DOI: 10.21203/rs.3.rs-4372666/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Molecular and clinical characterization of two independent Chinese families with protein C deficiencyDOI 10.21203/rs.3.rs-4372666/v1Read

[Clinical phenotype and gene mutation analysis of 12 patients with hereditary protein C deficiency in different families].Semantic proximity Read

Analysis of Four Hereditary Protein C Deficiencies Associated with Vascular ThromboembolismSemantic proximity Read

Analysis of four hereditary protein C deficiencies associated with vascular thromboembolism.Semantic proximity Read

Clinical and genetic features of protein C deficiency in 23 unrelated Chinese patients.Semantic proximity Read

Hereditary protein C deficiency caused by compound heterozygous mutants in two independent Chinese families.Semantic proximity Read

[Phenotype and genetic mutation analysis of an inherited protein C deficiency pedigree].Semantic proximity Read

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

Two novel compound heterozygous mutations associated with types I and II protein C deficiency with unusual phenotypes.Semantic proximity Read

Genetic background analysis of protein C deficiency demonstrates a recurrent mutation associated with venous thrombosis in Chinese population.Semantic proximity Read

A protein C and plasminogen compound heterozygous mutation and a compound heterozygote of protein C in two related Chinese families.Semantic proximity Read

Clinical Manifestation and Mutation Spectrum of 53 Unrelated Pedigrees with Protein S Deficiency in ChinaSemantic proximity Read

The significance of F139V mutation on thrombotic events in compound heterozygous and homozygous protein C deficiency.Semantic proximity Read