Article
[Type I hereditary protein C deficiency due to C5498T mutation in protein C gene].
Zhonghua yi xue za zhi - 10 Oct 2003
Zhou Rong-fu, Wang Hong-li, Fu Qi-hua, Wang Wen-bin, Wu Wen-man, Ding Qiu-lan, Xie Shuang, Hu Yi-qun, Wang Xue-feng, Wang Zhen-yi
Abstract excerpt
OBJECTIVE: To identify the gene mutation in a Chinese pedigree of type I hereditary protein C deficiency. METHODS: The plasma levels of protein C activity (PC:A), protein C antigen (PC:Ag), protein S activity, and anti-thrombin activity (AT:A) of the propositus, male, aged 7, and 11 members of the pedigree were detected using ELISA and chromogenic assay respectively. All of the nine exons and intron-exon...
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