Protein C Thr315Ala variant results in gain of function but manifests as type II deficiency in diagnostic assays-Reference-Cited by-同舟云学术

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

Published:2015-04-09 Issue:15 Volume:125 Page:2428-2434
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Ding Qiulan¹,Yang Likui²,Dinarvand Peyman²,Wang Xuefeng¹,Rezaie Alireza R.²

Affiliation:

1. Department of Laboratory Medicine, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; and

2. Edward A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, St. Louis, MO

Abstract

Key Points A 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.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/125/15/2428/1384377/2428.pdf

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