Article
[Analysis of phenotype and genotype in two Chinese pedigrees with hereditary protein C deficiency].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi - 1 Mar 2007
Cai Xiao-Hong, Zhou Rong-Fu, Xie Shuang, Wang Wen-Bin, Dai Jing, Ding Qiu-Lan, Fang Yi, Xie Fei, Wang Xue-Feng, Wang Hong-Li
Abstract excerpt
OBJECTIVE: To identify the phenotype and gene mutation in two Chinese pedigrees with hereditary protein C deficiency. METHODS: The plasma level of protein C activity (PC: A) , protein C antigen (PC: Ag), protein S activity (PS: A), and antithrombin activity (AT: A) of the probands and their family members were detected using chromogenic assay and ELISA, respectively. All of the nine exons and intron-exon...
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