Article
Homozygous protein C deficiency with late onset venous thrombosis: identification and in vitro expression study of a novel Pro275Ser mutation.
Pathology - 1 Jun 2012
Yu Tingting, Dai Jing, Liu Hongjing, Wang Jian, Ding Qiulan, Wang Hongli, Wang Xuefeng, Fu Qihua
Abstract excerpt
AIMS: To identify the mutation and study the molecular mechanism of inherited protein C (PC) deficiency in a Chinese pedigree. METHODS: The plasma levels of PC activity (PC:A) and antigen (PC:Ag) were measured by chromogenic assay and ELISA, respectively. The PROC gene was amplified and sequenced for mutational screening. Wild type and Pro275Ser mutant PC cDNA expression plasmids were constructed and transfected...
Topics
- Animals
- Blood Coagulation
- COS Cells
- Chlorocebus aethiops
- Consanguinity
- DNA Mutational Analysis
- Family Health
- Female
- HEK293 Cells
- Homozygote
- Humans
- Male
- Mutation
- Pedigree