descriptionPublicationkeyboard_double_arrow_right Article 09 Apr 2015 English Publisher:American Society of HematologyJournal:Blood, volume 125, pages 2,428-2,434 (issn: 0006-4971, eissn: 1528-0020,

Authors: Qiulan, Ding; Likui, Yang; Peyman, Dinarvand; Xuefeng, Wang; Alireza R, Rezaie;

doi: 10.1182/blood-2014-12-617274

pmid: 25651845

pmc: PMC4392011

Protein C Thr315Ala variant results in gain of function but manifests as type II deficiency in diagnostic assays

- Summary
- Subjects
- Related research
  (23)
- Metrics

tips_and_updates
Recommended

Abstract

Key PointsA novel PC mutation in a healthy subject results in type II PC deficiency as diagnosed by commercial kits. Recombinant expression and analysis reveals this is a gain-of-function mutant of PC that cannot be properly diagnosed by commercial kits.

Related Organizations

University of Mary
United States
Ruijin Hospital
China (People's Republic of)
Shanghai Jiao Tong University
China (People's Republic of)
Saint Louis University
United States

Keywords

Adult, Thrombomodulin, Thrombin, Protein C Deficiency, Cohort Studies, HEK293 Cells, Humans, Point Mutation, Female, Blood Coagulation Tests, Blood Coagulation, Protein C

23 Research products, page 1 of 3

cDNA FLJ51179, highly similar to Vitamin K-dependent protein C
2018IsRelatedTo
Protein C
2017IsRelatedTo
Protein C
2017IsRelatedTo
Protein C
2017IsRelatedTo
Protein C
2017IsRelatedTo
Protein C
2017IsRelatedTo
Protein C
2017IsRelatedTo
Type I protein C
2017IsRelatedTo
Vitamin K-dependent protein C
2017IsRelatedTo
Protein C
2017IsRelatedTo

chevron_left
1
2
3
chevron_right

Impact byBIP!

	citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).	27
	popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.	Top 10%
	influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).	Top 10%
	impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.	Top 10%